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<meta name="keywords" content="C1845146, congenital abnormality, fgfr1, hartsfield bixler demyer syndrome, hartsfield syndrome, hartsfield-bixler-demyer syndrome, holoprosencephaly, ectrodactyly, and bilateral cleft lip-palate, holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate, holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome, holoprosencephaly-ectrodactyly-cleft lip palate syndrome, holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, hrtfds, 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="FGFR1-related Hartsfield syndrome comprises two core features: holoprosencephaly (HPE) spectrum disorder and ectrodactyly spectrum disorder. HPE spectrum disorder, resulting from failed or incomplete forebrain division early in gestation, includes alobar, semilobar, or lobar HPE. Other observed midline brain malformations include corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs and tracts, and vermian hypoplasia. Other findings associated with the HPE spectrum such as craniofacial dysmorphism, neurologic issues (developmental delay, spasticity, seizures, hypothalamic dysfunction), feeding problems, and endocrine issues (hypogonadotropic hypogonadism and central insipidus diabetes) are common. Ectrodactyly spectrum disorders are unilateral or bilateral malformations of the hands and/or feet characterized by a median cleft of hand or foot due to absence of the longitudinal central rays (also called split-hand/foot malformation). The number of digits on the right and left can vary. Polydactyly and syndactyly can also be seen." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=335111
|
||
ConceptID=C1845146
|
||
-->
|
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<!--imgCountBooks = 6--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (6)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image006.gif" src-large="/books/NBK1530/bin/hpe-overview-Image006.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F6/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image001.gif" src-large="/books/NBK1530/bin/hpe-overview-Image001.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image004.gif" src-large="/books/NBK1530/bin/hpe-overview-Image004.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image002.gif" src-large="/books/NBK1530/bin/hpe-overview-Image002.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image005.gif" src-large="/books/NBK1530/bin/hpe-overview-Image005.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image003.gif" src-large="/books/NBK1530/bin/hpe-overview-Image003.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Hartsfield-Bixler-Demyer syndrome<span class="h1sub">(HRTFDS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335111</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:">C1845146</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hartsfield syndrome; Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate; HRTFDS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hartsfield syndrome (766032007); Hartsfield Bixler Demyer syndrome (766032007); Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (766032007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FGFR1 - ID: 2260 - NCBI Gene" href="/gene/2260" class="medgenPMinfo">FGFR1</a> (8p11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014196" target="_blank">MONDO:0014196</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615465" target="_blank">615465</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=2117">ORPHA2117</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>
|
||
<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">FGFR1-related Hartsfield syndrome comprises two core features: holoprosencephaly (HPE) spectrum disorder and ectrodactyly spectrum disorder. HPE spectrum disorder, resulting from failed or incomplete forebrain division early in gestation, includes alobar, semilobar, or lobar HPE. Other observed midline brain malformations include corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs and tracts, and vermian hypoplasia. Other findings associated with the HPE spectrum such as craniofacial dysmorphism, neurologic issues (developmental delay, spasticity, seizures, hypothalamic dysfunction), feeding problems, and endocrine issues (hypogonadotropic hypogonadism and central insipidus diabetes) are common. Ectrodactyly spectrum disorders are unilateral or bilateral malformations of the hands and/or feet characterized by a median cleft of hand or foot due to absence of the longitudinal central rays (also called split-hand/foot malformation). The number of digits on the right and left can vary. Polydactyly and syndactyly can also be seen. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hartsfield syndrome (HRTFDS) classically refers to the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profoundly impaired intellectual development is also present. Multiple other congenital anomalies usually occur (Vilain et al., 2009). The disorder involves midline and limb field defects (Zechi-Ceide et al., 2009).
|
||
See also ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC; 129900), which shows phenotypic similarities. <a target="_blank" href="http://www.omim.org/entry/615465">http://www.omim.org/entry/615465</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly.<br /><br />During early development before birth, the brain normally divides into two halves, the right and left hemispheres. Holoprosencephaly occurs when the brain fails to divide properly. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. In less severe cases of holoprosencephaly, the brain is partially divided. The life expectancy of these affected individuals depends on the severity of signs and symptoms.<br /><br />People with Hartsfield syndrome often have other brain abnormalities associated with holoprosencephaly. Affected individuals may have a malfunctioning pituitary, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. These include diabetes insipidus, which disrupts the balance between fluid intake and urine excretion; a shortage (deficiency) of growth hormone, leading to slow or delayed growth; and hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature and sleep patterns. People with Hartsfield syndrome have delayed development that ranges from mild to severe.<br /><br />The other hallmark feature of Hartsfield syndrome is ectrodactyly. Ectrodactyly is a deep split in the hands, feet, or both, with missing fingers or toes and partial fusion of the remaining digits. It can affect the hands and feet on one or both sides. Other features that have been described in people with Hartsfield syndrome include premature fusion of certain bones of the skull (craniosynostosis), heart defects, abnormalities of the bones of the spine (vertebrae), and abnormal genitalia. Some affected individuals have distinctive facial features, including eyes that are widely spaced (hypertelorism) or closely spaced (hypotelorism), ears that are abnormally small or unusually shaped, and a split in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). <a target="_blank" href="https://medlineplus.gov/genetics/condition/hartsfield-syndrome">https://medlineplus.gov/genetics/condition/hartsfield-syndrome</a></div></div>
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<div class="portlet mgSection" id="ID_102">
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<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<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>
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<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>
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<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>
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||
<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>
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<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>
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<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>
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||
<div class="divPopper rprt" id="clin_1633603"><div><strong>Micropenis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633603</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.">C4551492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1633603">Feature record</a> | <a href="/medgen?term=%22Micropenis%22%5BClinical%20Features%5D%20OR%201633603%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<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>
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||
<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>
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||
<div class="divPopper rprt" id="clin_78566"><div><strong>Ectrodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78566</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.">C0265554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/78566">Feature record</a> | <a href="/medgen?term=%22Ectrodactyly%22%5BClinical%20Features%5D%20OR%2078566%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>
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<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>
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||
<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>
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||
<div class="divPopper rprt" id="clin_96566"><div><strong>Posteriorly rotated ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96566</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.">C0431478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96566">Feature record</a> | <a href="/medgen?term=%22Posteriorly%20rotated%20ears%22%5BClinical%20Features%5D%20OR%2096566%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_104498"><div><strong>Corpus callosum, agenesis of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104498</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.">C0175754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104498">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%2C%20agenesis%20of%22%5BClinical%20Features%5D%20OR%20104498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96559"><div><strong>Lobar holoprosencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96559</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.">C0431362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96559">Feature record</a> | <a href="/medgen?term=%22Lobar%20holoprosencephaly%22%5BClinical%20Features%5D%20OR%2096559%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140909"><div><strong>Alobar holoprosencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140909</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.">C0431363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140909">Feature record</a> | <a href="/medgen?term=%22Alobar%20holoprosencephaly%22%5BClinical%20Features%5D%20OR%20140909%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_199694"><div><strong>Semilobar holoprosencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199694</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.">C0751617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199694">Feature record</a> | <a href="/medgen?term=%22Semilobar%20holoprosencephaly%22%5BClinical%20Features%5D%20OR%20199694%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1632671"><div><strong>Gonadotropin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632671</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.">C4552011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632671">Feature record</a> | <a href="/medgen?term=%22Gonadotropin%20deficiency%22%5BClinical%20Features%5D%20OR%201632671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1163"><div><strong>Craniosynostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1163</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.">C0010278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1163">Feature record</a> | <a href="/medgen?term=%22Craniosynostosis%20syndrome%22%5BClinical%20Features%5D%20OR%201163%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_375593"><div><strong>Hypoplasia of the frontal bone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375593</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.">C1845147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Underdevelopment of the frontal bone.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/375593">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20frontal%20bone%22%5BClinical%20Features%5D%20OR%20375593%5Buid%5D">Search on this feature</a></div></div>
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||
<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_6966"><div><strong>Hypernatremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6966</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.">C0020488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased sodium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6966">Feature record</a> | <a href="/medgen?term=%22Hypernatremia%22%5BClinical%20Features%5D%20OR%206966%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_40327"><div><strong>Cleft upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40327</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.">C0008924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40327">Feature record</a> | <a href="/medgen?term=%22Cleft%20upper%20lip%22%5BClinical%20Features%5D%20OR%2040327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140869"><div><strong>Wide nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140869</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.">C0426421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140869">Feature record</a> | <a href="/medgen?term=%22Wide%20nose%22%5BClinical%20Features%5D%20OR%20140869%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_342454"><div><strong>Median cleft upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342454</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.">C1850256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of cleft lip presenting as a midline (median) gap in the upper lip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342454">Feature record</a> | <a href="/medgen?term=%22Median%20cleft%20upper%20lip%22%5BClinical%20Features%5D%20OR%20342454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8349"><div><strong>Diabetes insipidus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8349</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.">C0011848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8349">Feature record</a> | <a href="/medgen?term=%22Diabetes%20insipidus%22%5BClinical%20Features%5D%20OR%208349%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_96107"><div><strong>Hypotelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96107</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.">C0424711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96107">Feature record</a> | <a href="/medgen?term=%22Hypotelorism%22%5BClinical%20Features%5D%20OR%2096107%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_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft upper lip</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_342454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Median cleft upper lip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nose</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_78566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly</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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypernatremia</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes insipidus</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_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_96107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotelorism</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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micropenis</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_1163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the frontal bone</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_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></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_140909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alobar holoprosencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum, agenesis of</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gonadotropin deficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lobar holoprosencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Semilobar holoprosencephaly</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_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_96566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posteriorly rotated ears</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></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079541[DISCUI]&test_type=Clinical" ref="ncbi_uid=38214">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=38214" target="_blank" href="/omim/236100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=38214">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=38214" ref="ncbi_uid=38214">V</a></span></span><span class="TLline"><a href="/medgen/38214" ref="tree=GTR&ncbi_uid=38214&link_uid=38214" title="View MedGen record for 'Holoprosencephaly sequence'">Holoprosencephaly sequence</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265242[DISCUI]&test_type=Clinical" ref="ncbi_uid=78541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78541" target="_blank" href="/omim/167420">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=78541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78541" ref="ncbi_uid=78541">V</a></span></span><span class="TLline"><a href="/medgen/78541" ref="tree=GTR&ncbi_uid=78541&link_uid=78541" title="View MedGen record for 'Agnathia-otocephaly complex'">Agnathia-otocephaly complex</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675857[DISCUI]&test_type=Clinical" ref="ncbi_uid=382704">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382704" target="_blank" href="/omim/612530">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=382704" ref="ncbi_uid=382704">V</a></span></span><span class="TLline"><a href="/medgen/382704" ref="tree=GTR&ncbi_uid=382704&link_uid=382704" title="View MedGen record for 'Chromosome 1q41-q42 deletion syndrome'">Chromosome 1q41-q42 deletion syndrome</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845146[DISCUI]&test_type=Clinical" ref="ncbi_uid=335111">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335111" target="_blank" href="/omim/136350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1530%20OR%20NBK349073)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=335111">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335111" ref="ncbi_uid=335111">V</a></span></span><span class="TLline">Hartsfield-Bixler-Demyer syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0266667[DISCUI]&test_type=Clinical" ref="ncbi_uid=78617">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78617" target="_blank" href="/omim/236100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=78617">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78617" ref="ncbi_uid=78617">V</a></span></span><span class="TLline"><a href="/medgen/78617" ref="tree=GTR&ncbi_uid=78617&link_uid=78617" title="View MedGen record for 'Holoprosencephaly 1'">Holoprosencephaly 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1834877[DISCUI]&test_type=Clinical" ref="ncbi_uid=322517">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322517" target="_blank" href="/omim/157170">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=322517">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322517" ref="ncbi_uid=322517">V</a></span></span><span class="TLline"><a href="/medgen/322517" ref="tree=GTR&ncbi_uid=322517&link_uid=322517" title="View MedGen record for 'Holoprosencephaly 2'">Holoprosencephaly 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1840529[DISCUI]&test_type=Clinical" ref="ncbi_uid=327125">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=327125" target="_blank" href="/omim/142945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=327125">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=327125" ref="ncbi_uid=327125">V</a></span></span><span class="TLline"><a href="/medgen/327125" ref="tree=GTR&ncbi_uid=327125&link_uid=327125" title="View MedGen record for 'Holoprosencephaly 3'">Holoprosencephaly 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1840528[DISCUI]&test_type=Clinical" ref="ncbi_uid=374488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374488" target="_blank" href="/omim/142946">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=374488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374488" ref="ncbi_uid=374488">V</a></span></span><span class="TLline"><a href="/medgen/374488" ref="tree=GTR&ncbi_uid=374488&link_uid=374488" title="View MedGen record for 'Holoprosencephaly 4'">Holoprosencephaly 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864827[DISCUI]&test_type=Clinical" ref="ncbi_uid=355304">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355304" target="_blank" href="/omim/603073">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=355304">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355304" ref="ncbi_uid=355304">V</a></span></span><span class="TLline"><a href="/medgen/355304" ref="tree=GTR&ncbi_uid=355304&link_uid=355304" title="View MedGen record for 'Holoprosencephaly 5'">Holoprosencephaly 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853830[DISCUI]&test_type=Clinical" ref="ncbi_uid=342979">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342979" target="_blank" href="/omim/605934">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=342979">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/342979" ref="tree=GTR&ncbi_uid=342979&link_uid=342979" title="View MedGen record for 'Holoprosencephaly 6'">Holoprosencephaly 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835820[DISCUI]&test_type=Clinical" ref="ncbi_uid=372134">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372134" target="_blank" href="/omim/601309">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=372134">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372134" ref="ncbi_uid=372134">V</a></span></span><span class="TLline"><a href="/medgen/372134" ref="tree=GTR&ncbi_uid=372134&link_uid=372134" title="View MedGen record for 'Holoprosencephaly 7'">Holoprosencephaly 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836254[DISCUI]&test_type=Clinical" ref="ncbi_uid=322873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322873" target="_blank" href="/omim/609408">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=322873">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/322873" ref="tree=GTR&ncbi_uid=322873&link_uid=322873" title="View MedGen record for 'Holoprosencephaly 8'">Holoprosencephaly 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835819[DISCUI]&test_type=Clinical" ref="ncbi_uid=324369">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324369" target="_blank" href="/omim/165230">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=324369">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324369" ref="ncbi_uid=324369">V</a></span></span><span class="TLline"><a href="/medgen/324369" ref="tree=GTR&ncbi_uid=324369&link_uid=324369" title="View MedGen record for 'Holoprosencephaly 9'">Holoprosencephaly 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=441620">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/441620" ref="tree=GTR&ncbi_uid=441620&link_uid=441620" title="View MedGen record for 'Holoprosencephaly caudal dysgenesis'">Holoprosencephaly caudal dysgenesis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=441187">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/441187" ref="tree=GTR&ncbi_uid=441187&link_uid=441187" title="View MedGen record for 'Holoprosencephaly deletion 2p'">Holoprosencephaly deletion 2p</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=441188">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/441188" ref="tree=GTR&ncbi_uid=441188&link_uid=441188" title="View MedGen record for 'Holoprosencephaly ectrodactyly cleft lip palate'">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=441189">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/441189" ref="tree=GTR&ncbi_uid=441189&link_uid=441189" title="View MedGen record for 'Holoprosencephaly radial heart renal anomalies'">Holoprosencephaly radial heart renal anomalies</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343987" target="_blank" href="/omim/610680">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=343987">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/343987" ref="tree=GTR&ncbi_uid=343987&link_uid=343987" title="View MedGen record for 'Holoprosencephaly, recurrent infections, and monocytosis'">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330464" target="_blank" href="/omim/601370">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=330464">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/330464" ref="tree=GTR&ncbi_uid=330464&link_uid=330464" title="View MedGen record for 'Holoprosencephaly-craniosynostosis syndrome'">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336097" target="_blank" href="/omim/306990">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=336097">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336097" ref="ncbi_uid=336097">V</a></span></span><span class="TLline"><a href="/medgen/336097" ref="tree=GTR&ncbi_uid=336097&link_uid=336097" title="View MedGen record for 'Holoprosencephaly-hypokinesia-congenital contractures syndrome'">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340382" target="_blank" href="/omim/264480">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=340382">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/340382" ref="tree=GTR&ncbi_uid=340382&link_uid=340382" title="View MedGen record for 'Holoprosencephaly-postaxial polydactyly syndrome'">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343380" target="_blank" href="/omim/245552">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=343380">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/343380" ref="tree=GTR&ncbi_uid=343380&link_uid=343380" title="View MedGen record for 'Lambotte syndrome'">Lambotte syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN120371[DISCUI]&test_type=Clinical" ref="ncbi_uid=468539">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468539" ref="tree=GTR&ncbi_uid=468539&link_uid=468539" title="View MedGen record for 'NODAL-Related Holoprosencephaly'">NODAL-Related Holoprosencephaly</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843164" ref="tree=MeSH" title="MedGen record for Ectrodactyly with and without other manifestations">Ectrodactyly with and without other manifestations</a></span><ul><li><span class="matched_ds">Hartsfield-Bixler-Demyer 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=2026&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hartsfield-Bixler-Demyer syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_105">
|
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<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>
|
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<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/36068685">International Consensus Statement on Obstructive Sleep Apnea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang JL,
|
||
Goldberg AN,
|
||
Alt JA,
|
||
Mohammed A,
|
||
Ashbrook L,
|
||
Auckley D,
|
||
Ayappa I,
|
||
Bakhtiar H,
|
||
Barrera JE,
|
||
Bartley BL,
|
||
Billings ME,
|
||
Boon MS,
|
||
Bosschieter P,
|
||
Braverman I,
|
||
Brodie K,
|
||
Cabrera-Muffly C,
|
||
Caesar R,
|
||
Cahali MB,
|
||
Cai Y,
|
||
Cao M,
|
||
Capasso R,
|
||
Caples SM,
|
||
Chahine LM,
|
||
Chang CP,
|
||
Chang KW,
|
||
Chaudhary N,
|
||
Cheong CSJ,
|
||
Chowdhuri S,
|
||
Cistulli PA,
|
||
Claman D,
|
||
Collen J,
|
||
Coughlin KC,
|
||
Creamer J,
|
||
Davis EM,
|
||
Dupuy-McCauley KL,
|
||
Durr ML,
|
||
Dutt M,
|
||
Ali ME,
|
||
Elkassabany NM,
|
||
Epstein LJ,
|
||
Fiala JA,
|
||
Freedman N,
|
||
Gill K,
|
||
Gillespie MB,
|
||
Golisch L,
|
||
Gooneratne N,
|
||
Gottlieb DJ,
|
||
Green KK,
|
||
Gulati A,
|
||
Gurubhagavatula I,
|
||
Hayward N,
|
||
Hoff PT,
|
||
Hoffmann OMG,
|
||
Holfinger SJ,
|
||
Hsia J,
|
||
Huntley C,
|
||
Huoh KC,
|
||
Huyett P,
|
||
Inala S,
|
||
Ishman SL,
|
||
Jella TK,
|
||
Jobanputra AM,
|
||
Johnson AP,
|
||
Junna MR,
|
||
Kado JT,
|
||
Kaffenberger TM,
|
||
Kapur VK,
|
||
Kezirian EJ,
|
||
Khan M,
|
||
Kirsch DB,
|
||
Kominsky A,
|
||
Kryger M,
|
||
Krystal AD,
|
||
Kushida CA,
|
||
Kuzniar TJ,
|
||
Lam DJ,
|
||
Lettieri CJ,
|
||
Lim DC,
|
||
Lin HC,
|
||
Liu SYC,
|
||
MacKay SG,
|
||
Magalang UJ,
|
||
Malhotra A,
|
||
Mansukhani MP,
|
||
Maurer JT,
|
||
May AM,
|
||
Mitchell RB,
|
||
Mokhlesi B,
|
||
Mullins AE,
|
||
Nada EM,
|
||
Naik S,
|
||
Nokes B,
|
||
Olson MD,
|
||
Pack AI,
|
||
Pang EB,
|
||
Pang KP,
|
||
Patil SP,
|
||
Van de Perck E,
|
||
Piccirillo JF,
|
||
Pien GW,
|
||
Piper AJ,
|
||
Plawecki A,
|
||
Quigg M,
|
||
Ravesloot MJL,
|
||
Redline S,
|
||
Rotenberg BW,
|
||
Ryden A,
|
||
Sarmiento KF,
|
||
Sbeih F,
|
||
Schell AE,
|
||
Schmickl CN,
|
||
Schotland HM,
|
||
Schwab RJ,
|
||
Seo J,
|
||
Shah N,
|
||
Shelgikar AV,
|
||
Shochat I,
|
||
Soose RJ,
|
||
Steele TO,
|
||
Stephens E,
|
||
Stepnowsky C,
|
||
Strohl KP,
|
||
Sutherland K,
|
||
Suurna MV,
|
||
Thaler E,
|
||
Thapa S,
|
||
Vanderveken OM,
|
||
de Vries N,
|
||
Weaver EM,
|
||
Weir ID,
|
||
Wolfe LF,
|
||
Woodson BT,
|
||
Won CHJ,
|
||
Xu J,
|
||
Yalamanchi P,
|
||
Yaremchuk K,
|
||
Yeghiazarians Y,
|
||
Yu JL,
|
||
Zeidler M,
|
||
Rosen IM</span><br />
|
||
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
|
||
2023 Jul;13(7):1061-1482.
|
||
Epub 2023 Mar 30
|
||
doi: 10.1002/alr.23079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36068685" target="_blank">36068685</a><a href="/pmc/articles/PMC10359192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24569125">Clinical practice guideline on diagnosis and treatment of hyponatraemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spasovski G,
|
||
Vanholder R,
|
||
Allolio B,
|
||
Annane D,
|
||
Ball S,
|
||
Bichet D,
|
||
Decaux G,
|
||
Fenske W,
|
||
Hoorn EJ,
|
||
Ichai C,
|
||
Joannidis M,
|
||
Soupart A,
|
||
Zietse R,
|
||
Haller M,
|
||
van der Veer S,
|
||
Van Biesen W,
|
||
Nagler E;
|
||
Hyponatraemia Guideline Development Group</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2014 Mar;170(3):G1-47.
|
||
Epub 2014 Feb 25
|
||
doi: 10.1530/EJE-13-1020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24569125" target="_blank">24569125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24074529">Diagnosis, evaluation, and treatment of hyponatremia: expert panel recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbalis JG,
|
||
Goldsmith SR,
|
||
Greenberg A,
|
||
Korzelius C,
|
||
Schrier RW,
|
||
Sterns RH,
|
||
Thompson CJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2013 Oct;126(10 Suppl 1):S1-42.
|
||
doi: 10.1016/j.amjmed.2013.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24074529" target="_blank">24074529</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hartsfield-bixler-demyer%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 (62683)</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/35103797">Defining RASopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rauen KA</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
|
||
2022 Feb 1;15(2)
|
||
doi: 10.1242/dmm.049344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35103797" target="_blank">35103797</a><a href="/pmc/articles/PMC8821523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34801143">Syndromic Hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varagur K,
|
||
Sanka SA,
|
||
Strahle JM</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
|
||
2022 Jan;33(1):67-79.
|
||
doi: 10.1016/j.nec.2021.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34801143" target="_blank">34801143</a><a href="/pmc/articles/PMC8985913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33620111">Autoinflammatory syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meier-Schiesser B,
|
||
French LE</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2021 Mar;19(3):400-426.
|
||
Epub 2021 Feb 23
|
||
doi: 10.1111/ddg.14332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33620111" target="_blank">33620111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27273803">Etiologies of uterine malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacquinet A,
|
||
Millar D,
|
||
Lehman A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Aug;170(8):2141-72.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1002/ajmg.a.37775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27273803" target="_blank">27273803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23088440">The trisomy 18 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cereda A,
|
||
Carey JC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 Oct 23;7:81.
|
||
doi: 10.1186/1750-1172-7-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23088440" target="_blank">23088440</a><a href="/pmc/articles/PMC3520824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hartsfield-Bixler-Demyer%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 (425500)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37981410">Syndromic Craniofacial Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tibesar RJ,
|
||
Scott AR</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2024 Feb;32(1):141-156.
|
||
Epub 2023 Aug 23
|
||
doi: 10.1016/j.fsc.2023.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37981410" target="_blank">37981410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36251488">VEXAS Syndrome-A Review of Pathophysiology, Presentation, and Prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koster MJ,
|
||
Samec MJ,
|
||
Warrington KJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Rheumatol</span>
|
||
2023 Sep 1;29(6):298-306.
|
||
Epub 2022 Oct 17
|
||
doi: 10.1097/RHU.0000000000001905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36251488" target="_blank">36251488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34914668">Neuromuscular hyperexcitability syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Wel B,
|
||
Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2021 Oct 1;34(5):714-720.
|
||
doi: 10.1097/WCO.0000000000000963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34914668" target="_blank">34914668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33620111">Autoinflammatory syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meier-Schiesser B,
|
||
French LE</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2021 Mar;19(3):400-426.
|
||
Epub 2021 Feb 23
|
||
doi: 10.1111/ddg.14332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33620111" target="_blank">33620111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29995620">Incomplete Cord Syndromes: Clinical and Imaging Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kunam VK,
|
||
Velayudhan V,
|
||
Chaudhry ZA,
|
||
Bobinski M,
|
||
Smoker WRK,
|
||
Reede DL</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2018 Jul-Aug;38(4):1201-1222.
|
||
doi: 10.1148/rg.2018170178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29995620" target="_blank">29995620</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hartsfield-Bixler-Demyer%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 (426321)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34203240">Application of Stem Cell Therapy for Infertility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saha S,
|
||
Roy P,
|
||
Corbitt C,
|
||
Kakar SS</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Jun 28;10(7)
|
||
doi: 10.3390/cells10071613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34203240" target="_blank">34203240</a><a href="/pmc/articles/PMC8303590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33135153">Sunflower syndrome: a poorly understood photosensitive epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geenen KR,
|
||
Patel S,
|
||
Thiele EA</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 Mar;63(3):259-262.
|
||
Epub 2020 Oct 31
|
||
doi: 10.1111/dmcn.14723.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33135153" target="_blank">33135153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31452067">Practical Treatment Considerations in the Management of Genitourinary Syndrome of Menopause.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kagan R,
|
||
Kellogg-Spadt S,
|
||
Parish SJ</span><br />
|
||
<span class="medgenPMjournal">Drugs Aging</span>
|
||
2019 Oct;36(10):897-908.
|
||
doi: 10.1007/s40266-019-00700-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31452067" target="_blank">31452067</a><a href="/pmc/articles/PMC6764929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29291206">Effectiveness of Therapeutic Exercise in Fibromyalgia Syndrome: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sosa-Reina MD,
|
||
Nunez-Nagy S,
|
||
Gallego-Izquierdo T,
|
||
Pecos-Martín D,
|
||
Monserrat J,
|
||
Álvarez-Mon M</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2017;2017:2356346.
|
||
Epub 2017 Sep 20
|
||
doi: 10.1155/2017/2356346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29291206" target="_blank">29291206</a><a href="/pmc/articles/PMC5632473" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28000494">Twiddler's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dharawat R,
|
||
Saadat M</span><br />
|
||
<span class="medgenPMjournal">Acta Med Acad</span>
|
||
2016 Nov;45(2):169-170.
|
||
doi: 10.5644/ama2006-124.174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28000494" target="_blank">28000494</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hartsfield-Bixler-Demyer%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 (295742)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35199544">Aspiration syndromes and associated lung injury: incidence, pathophysiology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Košutova P,
|
||
Mikolka P</span><br />
|
||
<span class="medgenPMjournal">Physiol Res</span>
|
||
2021 Dec 30;70(Suppl4):S567-S583.
|
||
doi: 10.33549/physiolres.934767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35199544" target="_blank">35199544</a><a href="/pmc/articles/PMC9054185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26713997">Caudal Duplication Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meena S,
|
||
Batra P</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2015 Dec;52(12):1099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26713997" target="_blank">26713997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17592743">Juvenile acanthosis nigricans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinha S,
|
||
Schwartz RA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2007 Sep;57(3):502-8.
|
||
Epub 2007 Jun 25
|
||
doi: 10.1016/j.jaad.2006.08.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17592743" target="_blank">17592743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16344407">Acute aortic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai TT,
|
||
Nienaber CA,
|
||
Eagle KA</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2005 Dec 13;112(24):3802-13.
|
||
doi: 10.1161/CIRCULATIONAHA.105.534198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16344407" target="_blank">16344407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8019656">Epilepsy in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dulac O</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1994 Apr;7(2):102-6.
|
||
doi: 10.1097/00019052-199404000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8019656" target="_blank">8019656</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hartsfield-Bixler-Demyer%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 (223530)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37931640">Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valle L,
|
||
Monahan KJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2024 Jan;9(1):68-82.
|
||
Epub 2023 Nov 4
|
||
doi: 10.1016/S2468-1253(23)00240-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37931640" target="_blank">37931640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36593018">Molecular Mechanisms Involved in Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yapijakis C,
|
||
Pachis N,
|
||
Sotiriadou T,
|
||
Vaila C,
|
||
Michopoulou V,
|
||
Vassiliou S</span><br />
|
||
<span class="medgenPMjournal">In Vivo</span>
|
||
2023 Jan-Feb;37(1):36-46.
|
||
doi: 10.21873/invivo.13052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36593018" target="_blank">36593018</a><a href="/pmc/articles/PMC9843758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35078609">Vascular syndromes: Revisiting classification of poststroke aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bunker LD,
|
||
Hillis AE</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2022;185:37-55.
|
||
doi: 10.1016/B978-0-12-823384-9.00002-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35078609" target="_blank">35078609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25698387">Combined and complex vascular malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clemens RK,
|
||
Pfammatter T,
|
||
Meier TO,
|
||
Alomari AI,
|
||
Amann-Vesti BR</span><br />
|
||
<span class="medgenPMjournal">Vasa</span>
|
||
2015 Mar;44(2):92-105.
|
||
doi: 10.1024/0301-1526/a000414.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25698387" target="_blank">25698387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23027098">Genetic generalized epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallentine WB,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurophysiol</span>
|
||
2012 Oct;29(5):408-19.
|
||
doi: 10.1097/WNP.0b013e31826bd92a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23027098" target="_blank">23027098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hartsfield-Bixler-Demyer%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 (255288)</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/32052621">Fear and anxiety managing methods during dental treatments: a systematic review of recent data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Stefano R,
|
||
Bruno A,
|
||
Muscatello MR,
|
||
Cedro C,
|
||
Cervino G,
|
||
Fiorillo L</span><br />
|
||
<span class="medgenPMjournal">Minerva Stomatol</span>
|
||
2019 Dec;68(6):317-331.
|
||
doi: 10.23736/S0026-4970.19.04288-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32052621" target="_blank">32052621</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29291206">Effectiveness of Therapeutic Exercise in Fibromyalgia Syndrome: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sosa-Reina MD,
|
||
Nunez-Nagy S,
|
||
Gallego-Izquierdo T,
|
||
Pecos-Martín D,
|
||
Monserrat J,
|
||
Álvarez-Mon M</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2017;2017:2356346.
|
||
Epub 2017 Sep 20
|
||
doi: 10.1155/2017/2356346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29291206" target="_blank">29291206</a><a href="/pmc/articles/PMC5632473" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28000146">Cannabinoid Hyperemesis Syndrome: Diagnosis, Pathophysiology, and Treatment-a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorensen CJ,
|
||
DeSanto K,
|
||
Borgelt L,
|
||
Phillips KT,
|
||
Monte AA</span><br />
|
||
<span class="medgenPMjournal">J Med Toxicol</span>
|
||
2017 Mar;13(1):71-87.
|
||
Epub 2016 Dec 20
|
||
doi: 10.1007/s13181-016-0595-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28000146" target="_blank">28000146</a><a href="/pmc/articles/PMC5330965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27373109">PLATEAU IRIS--DIAGNOSIS AND TREATMENT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefan C,
|
||
Iliescu DA,
|
||
Batras M,
|
||
Timaru CM,
|
||
De Simone A</span><br />
|
||
<span class="medgenPMjournal">Rom J Ophthalmol</span>
|
||
2015 Jan-Mar;59(1):14-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27373109" target="_blank">27373109</a><a href="/pmc/articles/PMC5729809" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25592340">Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canavan TN,
|
||
Mathes EF,
|
||
Frieden I,
|
||
Shinkai K</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2015 Feb;72(2):239-45.
|
||
doi: 10.1016/j.jaad.2014.06.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25592340" target="_blank">25592340</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hartsfield-Bixler-Demyer%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 (16866)</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">
|
||
<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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C1845146%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845146%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845146%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845146%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1845146%5bDISCUI%5d" target="_blank">See all (33)</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>
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||
<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=615465" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2117" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hartsfield-Bixler-Demyer%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=(hartsfield-bixler-demyer%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(%22Hartsfield-Bixler-Demyer%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=136350" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2260[geneid]" target="_blank">View FGFR1 variations in ClinVar</a></li><li><a href="/nuccore/188219627" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=615465" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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/hartsfield_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hartsfield-Bixler-Demyer%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hartsfield-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2725/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>
|
||
<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="/pubmed/20301702" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/26937548" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hartsfield-Bixler-Demyer%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hartsfield-Bixler-Demyer%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=335111" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=335111" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1845146[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1845146[DISCUI]&test_type=Clinical" ref="log$=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=335111" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=335111" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=335111" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=335111" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=335111" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=335111" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=335111" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=335111" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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</div>
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<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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</li>
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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