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<meta name="keywords" content="5p deletion syndrome, 5p deletion syndromes, 5p minus syndrome, 5p minus syndromes, 5p partial monosomy syndrome, 5p syndrome, 5p- syndrome, 5p- syndrome, chromosome, 5p- syndromes, 5p- syndromes, chromosome, C0010314, cat cry syndrome, cat cry syndromes, cat-cry syndrome, chromosome 5 short arm deletion syndrome, chromosome 5p deletion syndrome, chromosome 5p- syndrome, chromosome 5p- syndromes, cri du chat syndrome, cri-du-chat syndrome, cri-du-chat syndromes, crying cat syndrome, crying cat syndromes, deletion 5p, deletion of short arm of chromosome 5 syndrome, deletion syndrome, 5p, deletion syndromes, 5p, disease or syndrome, lejeune syndrome, minus syndrome, 5p, minus syndromes, 5p, monosomy 5p, monosomy type 5p, partial deletion of short arm of chromosome 5 syndrome, syndrome, 5p deletion, syndrome, 5p minus, syndrome, 5p-, syndrome, cat cry, syndrome, chromosome 5p-, syndrome, cri-du-chat, syndrome, crying cat, syndromes, 5p deletion, syndromes, 5p minus, syndromes, cat cry, syndromes, chromosome 5p-, syndromes, cri-du-chat, syndromes, crying cat, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=41345
|
||
ConceptID=C0010314
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">5p partial monosomy syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41345</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0010314</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>5p deletion syndrome; 5p minus syndrome; 5p- syndrome; CAT CRY SYNDROME; CHROMOSOME 5p DELETION SYNDROME; Chromosome 5p- syndrome; Cri du Chat Syndrome; Monosomy 5p</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>5p partial monosomy syndrome (70173007); Cri du chat syndrome (70173007); Lejeune syndrome (70173007); 5p minus syndrome (70173007); Partial deletion of short arm of chromosome 5 syndrome (70173007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_989040"><div><strong>Unknown inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">Hereditary clinical entity whose mode of inheritance is unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989040">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_989040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unknown inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007404" target="_blank">MONDO:0007404</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/123450" target="_blank">123450</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=281">ORPHA281</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome">https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78593"><div><strong>Abnormality of the kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78593</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0266292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78593">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20kidney%22%5BClinical%20Features%5D%20OR%2078593%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163083"><div><strong>Hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163083</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0848558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163083">Feature record</a> | <a href="/medgen?term=%22Hypospadias%22%5BClinical%20Features%5D%20OR%20163083%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42034"><div><strong>Pes planus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42034</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0016202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42034">Feature record</a> | <a href="/medgen?term=%22Pes%20planus%22%5BClinical%20Features%5D%20OR%2042034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52619"><div><strong>Syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52619</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52619">Feature record</a> | <a href="/medgen?term=%22Syndactyly%22%5BClinical%20Features%5D%20OR%2052619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96108"><div><strong>Single transverse palmar crease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96108</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0424731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96108">Feature record</a> | <a href="/medgen?term=%22Single%20transverse%20palmar%20crease%22%5BClinical%20Features%5D%20OR%2096108%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871318"><div><strong>High axial triradius</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871318">Feature record</a> | <a href="/medgen?term=%22High%20axial%20triradius%22%5BClinical%20Features%5D%20OR%20871318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_898667"><div><strong>Metatarsus adductus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898667</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4082169</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898667">Feature record</a> | <a href="/medgen?term=%22Metatarsus%20adductus%22%5BClinical%20Features%5D%20OR%20898667%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892473"><div><strong>Abnormal cardiovascular system morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892473</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4049796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any structural anomaly of the heart and blood vessels.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892473">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cardiovascular%20system%20morphology%22%5BClinical%20Features%5D%20OR%20892473%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_436211"><div><strong>Feeding difficulties in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436211</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2674608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436211">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%20in%20infancy%22%5BClinical%20Features%5D%20OR%20436211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140758"><div><strong>Stenosis of the external auditory canal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140758</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0395837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal narrowing of the external auditory canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140758">Feature record</a> | <a href="/medgen?term=%22Stenosis%20of%20the%20external%20auditory%20canal%22%5BClinical%20Features%5D%20OR%20140758%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167800"><div><strong>Abnormal pinna morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167800</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0857379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the pinna, which is also referred to as the auricle or external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167800">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pinna%20morphology%22%5BClinical%20Features%5D%20OR%20167800%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1384666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1613"><div><strong>Anxiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613">Feature record</a> | <a href="/medgen?term=%22Anxiety%22%5BClinical%20Features%5D%20OR%201613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_13966"><div><strong>Autism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13966</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13966">Feature record</a> | <a href="/medgen?term=%22Autism%22%5BClinical%20Features%5D%20OR%2013966%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8532"><div><strong>Echolalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8532">Feature record</a> | <a href="/medgen?term=%22Echolalia%22%5BClinical%20Features%5D%20OR%208532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18178"><div><strong>Oppositional defiant disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18178</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0029121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18178">Feature record</a> | <a href="/medgen?term=%22Oppositional%20defiant%20disorder%22%5BClinical%20Features%5D%20OR%2018178%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20497"><div><strong>Hyperacusis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20497</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Over-sensitivity to certain frequency ranges of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20497">Feature record</a> | <a href="/medgen?term=%22Hyperacusis%22%5BClinical%20Features%5D%20OR%2020497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19925"><div><strong>Self-mutilation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19925</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-mutilation%22%5BClinical%20Features%5D%20OR%2019925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82652"><div><strong>Short attention span</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82652</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0262630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced attention span characterized by distractibility and impulsivity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82652">Feature record</a> | <a href="/medgen?term=%22Short%20attention%20span%22%5BClinical%20Features%5D%20OR%2082652%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98406"><div><strong>Hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98406</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0424295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98406">Feature record</a> | <a href="/medgen?term=%22Hyperactivity%22%5BClinical%20Features%5D%20OR%2098406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866682"><div><strong>Conspicuously happy disposition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866682</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866682">Feature record</a> | <a href="/medgen?term=%22Conspicuously%20happy%20disposition%22%5BClinical%20Features%5D%20OR%20866682%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867995"><div><strong>Overfriendliness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867995</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4022386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of hypersociability that presents as mostly inappropriate friendliness towards others.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867995">Feature record</a> | <a href="/medgen?term=%22Overfriendliness%22%5BClinical%20Features%5D%20OR%20867995%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6817"><div><strong>Inguinal hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6817</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the contents of the abdominal cavity through the inguinal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6817">Feature record</a> | <a href="/medgen?term=%22Inguinal%20hernia%22%5BClinical%20Features%5D%20OR%206817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113171"><div><strong>Diastasis recti</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113171</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113171">Feature record</a> | <a href="/medgen?term=%22Diastasis%20recti%22%5BClinical%20Features%5D%20OR%20113171%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326907"><div><strong>Microretrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326907</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326907">Feature record</a> | <a href="/medgen?term=%22Microretrognathia%22%5BClinical%20Features%5D%20OR%20326907%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341358"><div><strong>Short metatarsal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341358</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341358">Feature record</a> | <a href="/medgen?term=%22Short%20metatarsal%22%5BClinical%20Features%5D%20OR%20341358%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_412209"><div><strong>Neonatal hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412209</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2267233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412209">Feature record</a> | <a href="/medgen?term=%22Neonatal%20hypotonia%22%5BClinical%20Features%5D%20OR%20412209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220360"><div><strong>Abnormal respiratory system physiology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1260922</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal function of the respiratory system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220360">Feature record</a> | <a href="/medgen?term=%22Abnormal%20respiratory%20system%20physiology%22%5BClinical%20Features%5D%20OR%20220360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336812"><div><strong>Recurrent infections in infancy and early childhood</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336812</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent infections at an early age with improvement in later childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20infections%20in%20infancy%20and%20early%20childhood%22%5BClinical%20Features%5D%20OR%20336812%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_536297"><div><strong>Cat cry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>536297</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/536297">Feature record</a> | <a href="/medgen?term=%22Cat%20cry%22%5BClinical%20Features%5D%20OR%20536297%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65891"><div><strong>Facial grimacing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65891</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial grimacing is characterized by a distorted, distressed look. The brow is more wrinkled, as is the area around the mouth. Eyes may be squeezed shut.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65891">Feature record</a> | <a href="/medgen?term=%22Facial%20grimacing%22%5BClinical%20Features%5D%20OR%2065891%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116087"><div><strong>Round face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116087</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The facial appearance is more circular than usual as viewed from the front.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116087">Feature record</a> | <a href="/medgen?term=%22Round%20face%22%5BClinical%20Features%5D%20OR%20116087%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120566"><div><strong>Anterior open-bite malocclusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120566</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0266060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120566">Feature record</a> | <a href="/medgen?term=%22Anterior%20open-bite%20malocclusion%22%5BClinical%20Features%5D%20OR%20120566%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99267"><div><strong>Short neck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99267</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0521525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of the neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99267">Feature record</a> | <a href="/medgen?term=%22Short%20neck%22%5BClinical%20Features%5D%20OR%2099267%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_266298"><div><strong>Facial asymmetry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266298</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1306710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal difference between the left and right sides of the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266298">Feature record</a> | <a href="/medgen?term=%22Facial%20asymmetry%22%5BClinical%20Features%5D%20OR%20266298%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324419"><div><strong>Long face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324419</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836047</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324419">Feature record</a> | <a href="/medgen?term=%22Long%20face%22%5BClinical%20Features%5D%20OR%20324419%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373334"><div><strong>Narrow face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373334</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373334">Feature record</a> | <a href="/medgen?term=%22Narrow%20face%22%5BClinical%20Features%5D%20OR%20373334%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326567"><div><strong>Thick lower lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326567</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326567">Feature record</a> | <a href="/medgen?term=%22Thick%20lower%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326567%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333982"><div><strong>Prominent supraorbital ridges</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333982</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333982">Feature record</a> | <a href="/medgen?term=%22Prominent%20supraorbital%20ridges%22%5BClinical%20Features%5D%20OR%20333982%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341441"><div><strong>Wide nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341441</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased breadth of the nasal bridge (and with it, the nasal root).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341441">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20341441%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350006"><div><strong>Short philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350006</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1861324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350006">Feature record</a> | <a href="/medgen?term=%22Short%20philtrum%22%5BClinical%20Features%5D%20OR%20350006%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356471"><div><strong>Downturned corners of mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356471</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356471">Feature record</a> | <a href="/medgen?term=%22Downturned%20corners%20of%20mouth%22%5BClinical%20Features%5D%20OR%20356471%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_472000"><div><strong>Orofacial cleft</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>472000</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3266076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/472000">Feature record</a> | <a href="/medgen?term=%22Orofacial%20cleft%22%5BClinical%20Features%5D%20OR%20472000%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646931"><div><strong>Bifid uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646931</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uvula separated into two parts most easily seen at the tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646931">Feature record</a> | <a href="/medgen?term=%22Bifid%20uvula%22%5BClinical%20Features%5D%20OR%201646931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75524"><div><strong>Premature graying of hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75524</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0263498</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Development of gray hair at a younger than normal age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75524">Feature record</a> | <a href="/medgen?term=%22Premature%20graying%20of%20hair%22%5BClinical%20Features%5D%20OR%2075524%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395989"><div><strong>Preauricular skin tag</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395989</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395989">Feature record</a> | <a href="/medgen?term=%22Preauricular%20skin%20tag%22%5BClinical%20Features%5D%20OR%20395989%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior open-bite malocclusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uvula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downturned corners of mouth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266298" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial asymmetry</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65891" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial grimacing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_472000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofacial cleft</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent supraorbital ridges</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Round face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short neck</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick lower lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal bridge</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High axial triradius</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_898667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metatarsus adductus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes planus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Single transverse palmar crease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cardiovascular system morphology</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_436211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties in infancy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypospadias</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent infections in infancy and early childhood</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preauricular skin tag</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature graying of hair</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diastasis recti</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inguinal hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microretrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_412209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metatarsal</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conspicuously happy disposition</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Echolalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperacusis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18178" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oppositional defiant disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867995" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overfriendliness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-mutilation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short attention span</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal respiratory system physiology</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_536297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cat cry</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pinna morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stenosis of the external auditory canal</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0010314[DISCUI]&test_type=Clinical" ref="ncbi_uid=41345">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=41345" target="_blank" href="/omim/123450">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41345" ref="ncbi_uid=41345">V</a></span></span><span class="TLline">5p partial monosomy syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843065" ref="tree=MeSH" title="MedGen record for Chromosomal anomaly with cataract">Chromosomal anomaly with cataract</a></span><ul><li><span class="matched_ds">5p partial monosomy syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=201&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">5p partial monosomy syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38485329">Prenatal diagnosis of distal 5p deletion syndrome associated with an abnormal first-trimester maternal serum screening result.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CP</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2024 Mar;63(2):263-265.
|
||
doi: 10.1016/j.tjog.2024.01.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38485329" target="_blank">38485329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
|
||
Feinstein J,
|
||
Romani P,
|
||
Goldson E,
|
||
Blackmer A</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
2019 Jun;39(6):645-664.
|
||
Epub 2019 Mar 27
|
||
doi: 10.1002/phar.2238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12162388">Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornish K,
|
||
Bramble D</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2002 Jul;44(7):494-7.
|
||
doi: 10.1017/s0012162201002419.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12162388" target="_blank">12162388</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(5p%20partial%20monosomy%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (16)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32511901">Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zapolnik P,
|
||
Sykut-Cegielska J,
|
||
Pyrkosz A</span><br />
|
||
<span class="medgenPMjournal">Acta Biochim Pol</span>
|
||
2020 Jun 8;67(2):263-266.
|
||
doi: 10.18388/abp.2020_5355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32511901" target="_blank">32511901</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32078008">Evolving therapies for lower-risk myelodysplastic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bewersdorf JP,
|
||
Zeidan AM</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2020 Apr;99(4):677-692.
|
||
Epub 2020 Feb 20
|
||
doi: 10.1007/s00277-020-03963-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32078008" target="_blank">32078008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
|
||
Feinstein J,
|
||
Romani P,
|
||
Goldson E,
|
||
Blackmer A</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
2019 Jun;39(6):645-664.
|
||
Epub 2019 Mar 27
|
||
doi: 10.1002/phar.2238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27729133">Does canal wall down mastoidectomy benefit syndromic children with congenital aural stenosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sjogren PP,
|
||
Gurgel RK,
|
||
Park AH</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2016 Nov;90:200-203.
|
||
Epub 2016 Sep 12
|
||
doi: 10.1016/j.ijporl.2016.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27729133" target="_blank">27729133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18437967">Cri-du-chat syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang CY,
|
||
Lin SP,
|
||
Lin HY,
|
||
Chen YJ,
|
||
Kao HA,
|
||
Yeung CY,
|
||
Hsu CH,
|
||
Chi H</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Taiwan</span>
|
||
2007 Nov-Dec;48(6):328-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18437967" target="_blank">18437967</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%225p%20partial%20monosomy%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (96)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25488457">Cri-du-chat syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nandhagopal R,
|
||
Udayakumar AM</span><br />
|
||
<span class="medgenPMjournal">Indian J Med Res</span>
|
||
2014 Oct;140(4):570-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25488457" target="_blank">25488457</a><a href="/pmc/articles/PMC4277150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20038906">Cri du chat syndrome: a critical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Caballero A,
|
||
Torres-Lagares D,
|
||
Rodríguez-Pérez A,
|
||
Serrera-Figallo MA,
|
||
Hernández-Guisado JM,
|
||
Machuca-Portillo G</span><br />
|
||
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
|
||
2010 May 1;15(3):e473-8.
|
||
doi: 10.4317/medoral.15.e473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20038906" target="_blank">20038906</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19466618">Cri-du-chat.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sigafoos J,
|
||
O'Reilly MF,
|
||
Lancioni GE</span><br />
|
||
<span class="medgenPMjournal">Dev Neurorehabil</span>
|
||
2009 Jun;12(3):119-21.
|
||
doi: 10.1080/17518420902975720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19466618" target="_blank">19466618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16953888">Cri du Chat syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerruti Mainardi P</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Sep 5;1:33.
|
||
doi: 10.1186/1750-1172-1-33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16953888" target="_blank">16953888</a><a href="/pmc/articles/PMC1574300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2943156">Dermatoglyphics in medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shiono H</span><br />
|
||
<span class="medgenPMjournal">Am J Forensic Med Pathol</span>
|
||
1986 Jun;7(2):120-6.
|
||
doi: 10.1097/00000433-198607020-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2943156" target="_blank">2943156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%225p%20partial%20monosomy%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (230)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35314525">Tubo-ovarian abscess in a patient with cri du chat syndrome: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujimori M,
|
||
Kyozuka H,
|
||
Sugeno M,
|
||
Jin T,
|
||
Ito F,
|
||
Suzuki D,
|
||
Ishii T,
|
||
Nomura Y</span><br />
|
||
<span class="medgenPMjournal">Fukushima J Med Sci</span>
|
||
2022 Apr 8;68(1):57-61.
|
||
Epub 2022 Mar 19
|
||
doi: 10.5387/fms.2021-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35314525" target="_blank">35314525</a><a href="/pmc/articles/PMC9071353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32519173">Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nozawa A,
|
||
Ozeki M,
|
||
Yasue S,
|
||
Endo S,
|
||
Kadowaki T,
|
||
Ohnishi H,
|
||
Muramatsu H,
|
||
Hama A,
|
||
Takahashi Y,
|
||
Kojima S,
|
||
Fukao T</span><br />
|
||
<span class="medgenPMjournal">Int J Hematol</span>
|
||
2020 Nov;112(5):728-733.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1007/s12185-020-02909-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32519173" target="_blank">32519173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32078008">Evolving therapies for lower-risk myelodysplastic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bewersdorf JP,
|
||
Zeidan AM</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2020 Apr;99(4):677-692.
|
||
Epub 2020 Feb 20
|
||
doi: 10.1007/s00277-020-03963-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32078008" target="_blank">32078008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
|
||
Feinstein J,
|
||
Romani P,
|
||
Goldson E,
|
||
Blackmer A</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
2019 Jun;39(6):645-664.
|
||
Epub 2019 Mar 27
|
||
doi: 10.1002/phar.2238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6236421">Infants' vocalizations as a diagnostic tool.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weston AJ,
|
||
Mader NT</span><br />
|
||
<span class="medgenPMjournal">Percept Mot Skills</span>
|
||
1984 Jun;58(3):787-96.
|
||
doi: 10.2466/pms.1984.58.3.787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6236421" target="_blank">6236421</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%225p%20partial%20monosomy%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32845907">Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kucharik M,
|
||
Gnip A,
|
||
Hyblova M,
|
||
Budis J,
|
||
Strieskova L,
|
||
Harsanyova M,
|
||
Pös O,
|
||
Kubiritova Z,
|
||
Radvanszky J,
|
||
Minarik G,
|
||
Szemes T</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2020;15(8):e0238245.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1371/journal.pone.0238245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32845907" target="_blank">32845907</a><a href="/pmc/articles/PMC7449492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32078008">Evolving therapies for lower-risk myelodysplastic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bewersdorf JP,
|
||
Zeidan AM</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2020 Apr;99(4):677-692.
|
||
Epub 2020 Feb 20
|
||
doi: 10.1007/s00277-020-03963-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32078008" target="_blank">32078008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20038906">Cri du chat syndrome: a critical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Caballero A,
|
||
Torres-Lagares D,
|
||
Rodríguez-Pérez A,
|
||
Serrera-Figallo MA,
|
||
Hernández-Guisado JM,
|
||
Machuca-Portillo G</span><br />
|
||
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
|
||
2010 May 1;15(3):e473-8.
|
||
doi: 10.4317/medoral.15.e473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20038906" target="_blank">20038906</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16953888">Cri du Chat syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerruti Mainardi P</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Sep 5;1:33.
|
||
doi: 10.1186/1750-1172-1-33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16953888" target="_blank">16953888</a><a href="/pmc/articles/PMC1574300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/126409">Cytogenetics and the pathologist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carr DH</span><br />
|
||
<span class="medgenPMjournal">Pathol Annu</span>
|
||
1975;10:93-144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/126409" target="_blank">126409</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%225p%20partial%20monosomy%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (59)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38884729">Human Genetics of Ventricular Septal Defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perrot A,
|
||
Rickert-Sperling S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2024;1441:505-534.
|
||
doi: 10.1007/978-3-031-44087-8_27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38884729" target="_blank">38884729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446334">Long-Term Follow-Up on Bilateral Posterior Hypothalamic Deep Brain Stimulation for Treating Refractory Aggressive Behavior in a Patient with Cri du Chat Syndrome: Analysis of Clinical Data, Intraoperative Microdialysis, and Imaging Connectomics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López Ríos AL,
|
||
Germann J,
|
||
Hutchison WD,
|
||
Botero Posada LF,
|
||
Ahunca Velasquez LF,
|
||
Garcia Jimenez FA,
|
||
Gloria Escobar JM,
|
||
Chacon Ruiz Martinez R,
|
||
Hamani C,
|
||
Lebrun I,
|
||
Auada AVV,
|
||
Restrepo Bravo CA,
|
||
Gouveia FV</span><br />
|
||
<span class="medgenPMjournal">Stereotact Funct Neurosurg</span>
|
||
2022;100(5-6):275-281.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1159/000526871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446334" target="_blank">36446334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34225100">A pediatric BAL case with double Ph chromosomes and trisomy 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gunden G,
|
||
Isik S,
|
||
Ozdemir C,
|
||
Cİlİngİr O,
|
||
Bor O,
|
||
Gokalp EE,
|
||
Kocagil S,
|
||
Artan S,
|
||
Aras BD</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet</span>
|
||
2021 Nov;258-259:7-9.
|
||
Epub 2021 Jun 22
|
||
doi: 10.1016/j.cancergen.2021.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34225100" target="_blank">34225100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32845907">Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kucharik M,
|
||
Gnip A,
|
||
Hyblova M,
|
||
Budis J,
|
||
Strieskova L,
|
||
Harsanyova M,
|
||
Pös O,
|
||
Kubiritova Z,
|
||
Radvanszky J,
|
||
Minarik G,
|
||
Szemes T</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2020;15(8):e0238245.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1371/journal.pone.0238245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32845907" target="_blank">32845907</a><a href="/pmc/articles/PMC7449492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31814264">A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DE,
|
||
Squire A,
|
||
Bennett JT</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Mar;182(3):543-547.
|
||
Epub 2019 Dec 8
|
||
doi: 10.1002/ajmg.a.61442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31814264" target="_blank">31814264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%225p%20partial%20monosomy%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (93)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32920986">Sella turcica morphology in patients with genetic syndromes: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roomaney IA,
|
||
Chetty M</span><br />
|
||
<span class="medgenPMjournal">Orthod Craniofac Res</span>
|
||
2021 May;24(2):194-205.
|
||
Epub 2020 Sep 28
|
||
doi: 10.1111/ocr.12426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32920986" target="_blank">32920986</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27475682">Impact of rare diseases in oral health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molina-García A,
|
||
Castellanos-Cosano L,
|
||
Machuca-Portillo G,
|
||
Posada-de la Paz M</span><br />
|
||
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
|
||
2016 Sep 1;21(5):e587-94.
|
||
doi: 10.4317/medoral.20972.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27475682" target="_blank">27475682</a><a href="/pmc/articles/PMC5005096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26457586">A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corcuera-Flores JR,
|
||
Casttellanos-Cosano L,
|
||
Torres-Lagares D,
|
||
Serrera-Figallo MÁ,
|
||
Rodríguez-Caballero Á,
|
||
Machuca-Portillo G</span><br />
|
||
<span class="medgenPMjournal">Clin Anat</span>
|
||
2016 Jul;29(5):555-60.
|
||
Epub 2015 Dec 21
|
||
doi: 10.1002/ca.22654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26457586" target="_blank">26457586</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%225p%20partial%20monosomy%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0010314%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010314%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010314%5bDISCUI%5d&filter=method%3A3%5F23" target="_blank">FISH-interphase (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010314%5bDISCUI%5d&filter=method%3A3%5F24" target="_blank">FISH-metaphase (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010314%5bDISCUI%5d&filter=method%3A3%5F31" target="_blank">Fluorescence in situ hybridization (FISH) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010314%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010314%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010314%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0010314%5bDISCUI%5d" target="_blank">See all (46)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=123450" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=281" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=5p%20partial%20monosomy%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(5p%20partial%20monosomy%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%225p%20partial%20monosomy%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://catalog.coriell.org/Search?q=123450" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cri_du_chat_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=5p%20partial%20monosomy%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6213/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="https://www.deciphergenomics.org/syndrome/2" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank">Decipher</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=5p%20partial%20monosomy%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=5p%20partial%20monosomy%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
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|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
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|
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||
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||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=41345" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0010314[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0010314[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=41345" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=41345" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=41345" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=41345" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=41345" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
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|
||
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|
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|
||
|
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||
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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