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1036 lines
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<!--
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||
UID=808205
|
||
ConceptID=C0262361
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Growth abnormality</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>808205</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.">C0262361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal growth; Growth issue</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001507">HP:0001507</a></td></tr>
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<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>
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<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></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0262361[DISCUI]&test_type=Clinical" ref="ncbi_uid=808205">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=808205" ref="ncbi_uid=808205">V</a></span></span><span class="TLline">Growth abnormality</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="matched_ds">Growth abnormality</span><ul><li><span class="TLline"><a href="/medgen/871403" ref="tree=MeSH" title="MedGen record for Abnormality of body height">Abnormality of body height</a></span><ul><li><span class="TLline"><a href="/medgen/868334" ref="tree=MeSH" title="MedGen record for Abnormal upper to lower segment ratio">Abnormal upper to lower segment ratio</a></span><ul><li><span class="TLline"><a href="/medgen/375459" ref="tree=MeSH" title="MedGen record for Increased upper to lower segment ratio">Increased upper to lower segment ratio</a></span></li><li><span class="TLline"><a href="/medgen/1632800" ref="tree=MeSH" title="MedGen record for Reduced upper to lower segment ratio">Reduced upper to lower segment ratio</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/69137" ref="tree=MeSH" title="MedGen record for Tall stature">Tall stature</a></span><ul><li><span class="TLline"><a href="/medgen/326443" ref="tree=MeSH" title="MedGen record for Birth length greater than 97th percentile">Birth length greater than 97th percentile</a></span></li><li><span class="TLline"><a href="/medgen/323048" ref="tree=MeSH" title="MedGen record for Disproportionate tall stature">Disproportionate tall stature</a></span></li><li><span class="TLline"><a href="/medgen/858407" ref="tree=MeSH" title="MedGen record for Idiopathic Tall Stature">Idiopathic Tall Stature</a></span></li><li><span class="TLline"><a href="/medgen/376550" ref="tree=MeSH" title="MedGen record for Overgrowth">Overgrowth</a></span></li><li><span class="TLline"><a href="/medgen/868957" ref="tree=MeSH" title="MedGen record for Proportionate tall stature">Proportionate tall stature</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892367" ref="tree=MeSH" title="MedGen record for Abnormality of body weight">Abnormality of body weight</a></span><ul><li><span class="TLline"><a href="/medgen/1775500" ref="tree=MeSH" title="MedGen record for Abnormal skinfold thickness measurement">Abnormal skinfold thickness measurement</a></span><ul><li><span class="TLline"><a href="/medgen/1723767" ref="tree=MeSH" title="MedGen record for Abnormal triceps skinfold thickness">Abnormal triceps skinfold thickness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1632006" ref="tree=MeSH" title="MedGen record for Abnormal waist to hip ratio">Abnormal waist to hip ratio</a></span><ul><li><span class="TLline"><a href="/medgen/1643227" ref="tree=MeSH" title="MedGen record for Decreased waist to hip ratio">Decreased waist to hip ratio</a></span></li><li><span class="TLline"><a href="/medgen/1636491" ref="tree=MeSH" title="MedGen record for Increased waist to hip ratio">Increased waist to hip ratio</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/910555" ref="tree=MeSH" title="MedGen record for Abnormality of body mass index">Abnormality of body mass index</a></span><ul><li><span class="TLline"><a href="/medgen/533673" ref="tree=MeSH" title="MedGen record for Decreased body mass index">Decreased body mass index</a></span></li><li><span class="TLline"><a href="/medgen/472957" ref="tree=MeSH" title="MedGen record for Increased body mass index">Increased body mass index</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1806755" ref="tree=MeSH" title="MedGen record for Decreased body weight">Decreased body weight</a></span><ul><li><span class="TLline"><a href="/medgen/871104" ref="tree=MeSH" title="MedGen record for Eunuchoid habitus">Eunuchoid habitus</a></span></li><li><span class="TLline"><a href="/medgen/746019" ref="tree=MeSH" title="MedGen record for Failure to thrive">Failure to thrive</a></span></li><li><span class="TLline"><a href="/medgen/376828" ref="tree=MeSH" title="MedGen record for Slender build">Slender build</a></span></li><li><span class="TLline"><a href="/medgen/65920" ref="tree=MeSH" title="MedGen record for Small for gestational age">Small for gestational age</a></span></li><li><span class="TLline"><a href="/medgen/853198" ref="tree=MeSH" title="MedGen record for Weight loss">Weight loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/12145" ref="tree=MeSH" title="MedGen record for Increased body weight">Increased body weight</a></span><ul><li><span class="TLline"><a href="/medgen/455814" ref="tree=MeSH" title="MedGen record for Average Body Weight Gain">Average Body Weight Gain</a></span></li><li><span class="TLline"><a href="/medgen/542213" ref="tree=MeSH" title="MedGen record for Excessive Weight Gain in Pregnancy">Excessive Weight Gain in Pregnancy</a></span></li><li><span class="TLline"><a href="/medgen/115900" ref="tree=MeSH" title="MedGen record for failure to gain weight">failure to gain weight</a></span></li><li><span class="TLline"><a href="/medgen/1645111" ref="tree=MeSH" title="MedGen record for Gestational Weight Gain">Gestational Weight Gain</a></span></li><li><span class="TLline"><a href="/medgen/905670" ref="tree=MeSH" title="MedGen record for Gravid Uterus Adjusted Maternal Body Weight Gain">Gravid Uterus Adjusted Maternal Body Weight Gain</a></span></li><li><span class="TLline"><a href="/medgen/341215" ref="tree=MeSH" title="MedGen record for Large for gestational age">Large for gestational age</a></span></li><li><span class="TLline"><a href="/medgen/535150" ref="tree=MeSH" title="MedGen record for Low maternal weight gain">Low maternal weight gain</a></span></li><li><span class="TLline"><a href="/medgen/821922" ref="tree=MeSH" title="MedGen record for Maternal Weight Gain in Pregnancy">Maternal Weight Gain in Pregnancy</a></span></li><li><span class="TLline"><a href="/medgen/18127" ref="tree=MeSH" title="MedGen record for Obesity">Obesity</a></span></li><li><span class="TLline"><a href="/medgen/105424" ref="tree=MeSH" title="MedGen record for Overweight">Overweight</a></span></li><li><span class="TLline"><a href="/medgen/455870" ref="tree=MeSH" title="MedGen record for Percentage Body Weight Gain">Percentage Body Weight Gain</a></span></li><li><span class="TLline"><a href="/medgen/1787108" ref="tree=MeSH" title="MedGen record for Weight Cycling">Weight Cycling</a></span></li><li><span class="TLline"><a href="/medgen/856766" ref="tree=MeSH" title="MedGen record for Weight Gain Due to Fluid Retention">Weight Gain Due to Fluid Retention</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1789172" ref="tree=MeSH" title="MedGen record for Acral overgrowth">Acral overgrowth</a></span></li><li><span class="TLline"><a href="/medgen/867636" ref="tree=MeSH" title="MedGen record for Asymmetric growth">Asymmetric growth</a></span><ul><li><span class="TLline"><a href="/medgen/451036" ref="tree=MeSH" title="MedGen record for Hemiatrophy">Hemiatrophy</a></span><ul><li><span class="TLline"><a href="/medgen/375494" ref="tree=MeSH" title="MedGen record for Hemihypotrophy of lower limb">Hemihypotrophy of lower limb</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90701" ref="tree=MeSH" title="MedGen record for Hemihypertrophy">Hemihypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/44089" ref="tree=MeSH" title="MedGen record for Lower limb asymmetry">Lower limb asymmetry</a></span><ul><li><span class="TLline"><a href="/medgen/451057" ref="tree=MeSH" title="MedGen record for Hemiatrophy of lower limb">Hemiatrophy of lower limb</a></span></li><li><span class="TLline"><a href="/medgen/451056" ref="tree=MeSH" title="MedGen record for Hemihypertrophy of lower limb">Hemihypertrophy of lower limb</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867635" ref="tree=MeSH" title="MedGen record for Upper limb asymmetry">Upper limb asymmetry</a></span><ul><li><span class="TLline"><a href="/medgen/451055" ref="tree=MeSH" title="MedGen record for Hemiatrophy of upper limb">Hemiatrophy of upper limb</a></span></li><li><span class="TLline"><a href="/medgen/451054" ref="tree=MeSH" title="MedGen record for Hemihypertrophy of upper limb">Hemihypertrophy of upper limb</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1723230" ref="tree=MeSH" title="MedGen record for Decreased body fat percentage">Decreased body fat percentage</a></span></li><li><span class="TLline"><a href="/medgen/99124" ref="tree=MeSH" title="MedGen record for Growth delay">Growth delay</a></span><ul><li><span class="TLline"><a href="/medgen/1373047" ref="tree=MeSH" title="MedGen record for Absent pubertal growth spurt">Absent pubertal growth spurt</a></span></li><li><span class="TLline"><a href="/medgen/4693" ref="tree=MeSH" title="MedGen record for Fetal growth restriction">Fetal growth restriction</a></span><ul><li><span class="TLline"><a href="/medgen/374360" ref="tree=MeSH" title="MedGen record for Mild intrauterine growth retardation">Mild intrauterine growth retardation</a></span></li><li><span class="TLline"><a href="/medgen/868956" ref="tree=MeSH" title="MedGen record for Moderate intrauterine growth retardation">Moderate intrauterine growth retardation</a></span></li><li><span class="TLline"><a href="/medgen/383783" ref="tree=MeSH" title="MedGen record for Severe intrauterine growth retardation">Severe intrauterine growth retardation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/395343" ref="tree=MeSH" title="MedGen record for Postnatal growth retardation">Postnatal growth retardation</a></span><ul><li><span class="TLline"><a href="/medgen/320640" ref="tree=MeSH" title="MedGen record for Mild postnatal growth retardation">Mild postnatal growth retardation</a></span></li><li><span class="TLline"><a href="/medgen/870182" ref="tree=MeSH" title="MedGen record for Moderate postnatal growth retardation">Moderate postnatal growth retardation</a></span></li><li><span class="TLline"><a href="/medgen/347510" ref="tree=MeSH" title="MedGen record for Severe postnatal growth retardation">Severe postnatal growth retardation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87607" ref="tree=MeSH" title="MedGen record for Short stature">Short stature</a></span><ul><li><span class="TLline"><a href="/medgen/870180" ref="tree=MeSH" title="MedGen record for Asymmetric short stature">Asymmetric short stature</a></span></li><li><span class="TLline"><a href="/medgen/340924" ref="tree=MeSH" title="MedGen record for Birth length less than 3rd percentile">Birth length less than 3rd percentile</a></span></li><li><span class="TLline"><a href="/medgen/168053" ref="tree=MeSH" title="MedGen record for Disproportionate short stature">Disproportionate short stature</a></span></li><li><span class="TLline"><a href="/medgen/853465" ref="tree=MeSH" title="MedGen record for idiopathic short stature">idiopathic short stature</a></span></li><li><span class="TLline"><a href="/medgen/8506" ref="tree=MeSH" title="MedGen record for Pituitary dwarfism">Pituitary dwarfism</a></span></li><li><span class="TLline"><a href="/medgen/163901" ref="tree=MeSH" title="MedGen record for Proportionate short stature">Proportionate short stature</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1785244" ref="tree=MeSH" title="MedGen record for Growth without growth hormone">Growth without growth hormone</a></span></li><li><span class="TLline"><a href="/medgen/75620" ref="tree=MeSH" title="MedGen record for Heterotaxy">Heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/868855" ref="tree=MeSH" title="MedGen record for Abnormality of abdominal situs">Abnormality of abdominal situs</a></span><ul><li><span class="TLline"><a href="/medgen/1622585" ref="tree=MeSH" title="MedGen record for Abdominal situs ambiguus">Abdominal situs ambiguus</a></span></li><li><span class="TLline"><a href="/medgen/52359" ref="tree=MeSH" title="MedGen record for Abdominal situs inversus">Abdominal situs inversus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1634559" ref="tree=MeSH" title="MedGen record for Isomerism">Isomerism</a></span><ul><li><span class="TLline"><a href="/medgen/1618562" ref="tree=MeSH" title="MedGen record for Bronchial isomerism">Bronchial isomerism</a></span></li><li><span class="TLline"><a href="/medgen/1640720" ref="tree=MeSH" title="MedGen record for Left Isomerism">Left Isomerism</a></span></li><li><span class="TLline"><a href="/medgen/64222" ref="tree=MeSH" title="MedGen record for Right isomerism">Right isomerism</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1374996" ref="tree=MeSH" title="MedGen record for Increased body fat percentage">Increased body fat percentage</a></span></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_7858"><div><strong>Acrocephalosyndactyly type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7858</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.">C0001193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7858">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1413"><div><strong>Alkaptonuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1413</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:">C0002066</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1413">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_9799"><div><strong>Osteogenesis imperfecta type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9799</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.">C0023931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9799">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_21102"><div><strong>Androgen resistance syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21102</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.">C0039585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/21102">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_39264"><div><strong>Mucopolysaccharidosis, MPS-III-A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39264</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.">C0086647</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/39264">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_39477"><div><strong>Mucopolysaccharidosis, MPS-III-C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39477</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.">C0086649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/39477">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_88602"><div><strong>Mucopolysaccharidosis, MPS-III-D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88602</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.">C0086650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/88602">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_56485"><div><strong>MELAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56485</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.">C0162671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T2-weighted signal areas that do not correspond to the classic vascular distribution (hence the term "stroke-like"). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56485">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120543"><div><strong>Cat eye syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120543</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.">C0265493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120543">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120563"><div><strong>Anonychia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120563</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.">C0265998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120563">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78631"><div><strong>Congenital secretory diarrhea, chloride type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78631</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.">C0267662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see 607364), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009). Genetic Heterogeneity of Diarrhea Other forms of diarrhea include DIAR2 (251850), caused by mutation in the MYO5B gene (606540) on 18q21; DIAR3 (270420), caused by mutation in the SPINT2 gene (605124) on 19q13; DIAR4 (610370), caused by mutation in the NEUROG3 gene (604882) on 10q21; DIAR5 (613217), caused by mutation in the EPCAM gene (185535) on 2p21; DIAR6 (614616), caused by mutation in the GUCY2C gene (601330) on 12p12; DIAR7 (615863) caused by mutation in the DGAT1 gene (604900) on 8q24; DIAR8 (616868), caused by mutation in the SLC9A3 gene (182307) on 5p15; DIAR9 (618168), caused by mutation in the WNT2B gene (601968) on 1p13; DIAR10 (618183), caused by mutation in the PLVAP gene (607647) on 19p13; DIAR11 (618662), caused by deletion of the intestine critical region (ICR) on 16p13, resulting in loss of expression of the flanking gene PERCC1 (618656); DIAR12 (619445), caused by mutation in the STX3 gene (600876) on 11q12; and DIAR13 (620357), caused by mutation in the ACSL5 gene (605677) on 10q25.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78631">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75686"><div><strong>Hooft disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75686</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.">C0268479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75686">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75701"><div><strong>Juvenile nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75701</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.">C0268626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75701">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_137980"><div><strong>Sialuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137980</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.">C0342853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sialuria is a rare inborn error of metabolism in which excessive free sialic acid is synthesized. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay (summary by Enns et al., 2001).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/137980">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_140932"><div><strong>Worth disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140932</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.">C0432273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture. The skeleton is normal in childhood. Facial metamorphoses occur in adolescence, as the forehead flattens, the mandible becomes elongated, and the gonial angle decreases. An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by Van Wesenbeeck et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140932">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162909"><div><strong>Perlman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162909</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.">C0796113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162909">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_327586"><div><strong>Andersen Tawil syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327586</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.">C1563715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/327586">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322042"><div><strong>Laterality defects, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322042</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.">C1832813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322764"><div><strong>Epiphyseal dysplasia, Baumann type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322764</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.">C1835830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324580"><div><strong>Spondyloepiphyseal dysplasia with metatarsal shortening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324580</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.">C1836683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324580">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341214"><div><strong>CHIME syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341214</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.">C1848392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341214">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383668"><div><strong>Maple syrup urine disease type 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383668</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.">C1855369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course: 12–24 hours. Elevated concentrations of branched-chain amino acids (BCAAs; leucine, isoleucine, and valine) and alloisoleucine, as well as a generalized disturbance of amino acid concentration ratios, are present in blood and the maple syrup odor can be detected in cerumen; Two to three days. Early and nonspecific signs of metabolic intoxication (i.e., irritability, hypersomnolence, anorexia) are accompanied by the presence of branched-chain alpha-ketoacids, acetoacetate, and beta-hydroxybutyrate in urine; Four to six days. Worsening encephalopathy manifests as lethargy, apnea, opisthotonos, and reflexive "fencing" or "bicycling" movements as the sweet maple syrup odor becomes apparent in urine; Seven to ten days. Severe intoxication culminates in critical cerebral edema, coma, and central respiratory failure. Individuals with intermediate MSUD have partial branched-chain alpha-ketoacid dehydrogenase deficiency that manifests only intermittently or responds to dietary thiamine therapy; these individuals can experience severe metabolic intoxication and encephalopathy in the face of sufficient catabolic stress. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed neonatal manifestations of MSUD remain asymptomatic with continued treatment adherence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383668">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383722"><div><strong>Keutel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383722</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.">C1855607</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383722">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395171"><div><strong>Verloove Vanhorick-Brubakk syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395171</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.">C1859082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395171">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348506"><div><strong>Neutropenia, severe congenital, 1, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348506</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.">C1859966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony-stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia (AML) is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348506">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356468"><div><strong>Premature aging syndrome, Okamoto type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356468</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.">C1866183</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356468">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_424833"><div><strong>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424833</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.">C2936858</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/424833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934634"><div><strong>Encephalopathy, progressive, with amyotrophy and optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934634</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.">C4310667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (Sferra et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934634">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639277"><div><strong>Zimmermann-Laband syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639277</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.">C4551773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010). Genetic Heterogeneity of Zimmermann-Laband Syndrome ZLS2 (616455) is caused by mutation in the ATP6V1B2 gene (606939) on chromosome 8p21. ZLS3 (618658) is caused by mutation in the KCNN3 gene (602983) on chromosome 1q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639277">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1631685"><div><strong>Arterial calcification, generalized, of infancy, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631685</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.">C4551985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. While mortality in infancy is high, survival into the third and fourth decades has occurred.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1631685">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648310"><div><strong>Proteasome-associated autoinflammatory syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648310</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.">C4746851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648310">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1800259"><div><strong>Isolated anhidrosis with normal sweat glands</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800259</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.">C5568836</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal (Klar et al., 2014).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1800259">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocephalosyndactyly type I</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alkaptonuria</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Andersen Tawil syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Androgen resistance syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anonychia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (32)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631685" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial calcification, generalized, of infancy, 1</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cat eye syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHIME syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_424833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital secretory diarrhea, chloride type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy, progressive, with amyotrophy and optic atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphyseal dysplasia, Baumann type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hooft disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated anhidrosis with normal sweat glands</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile nephropathic cystinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keutel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Laterality defects, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Maple syrup urine disease type 1A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MELAS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-III-A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-III-C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_88602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-III-D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348506" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia, severe congenital, 1, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perlman syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature aging syndrome, Okamoto type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sialuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia with metatarsal shortening</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Verloove Vanhorick-Brubakk syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Worth disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Zimmermann-Laband syndrome 1</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21163423">Management of infants born to mothers with gestational diabetes. Paediatric environment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitanchez D</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab</span>
|
||
2010 Dec;36(6 Pt 2):587-94.
|
||
doi: 10.1016/j.diabet.2010.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21163423" target="_blank">21163423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8033371">Effect of different treatment regimes on linear growth and final height in beta-thalassaemia major.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Sanctis V,
|
||
Katz M,
|
||
Vullo C,
|
||
Bagni B,
|
||
Ughi M,
|
||
Wonke B</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
1994 Jun;40(6):791-8.
|
||
doi: 10.1111/j.1365-2265.1994.tb02514.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8033371" target="_blank">8033371</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/840457">The diagnosis and management of intrauterine growth retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arias F</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
1977 Mar;49(3):293-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/840457" target="_blank">840457</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22growth%20abnormality%22%5Btiab%3A~0%5D)%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 (4)</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/35337236">Is birthweight influenced equally by maternal and paternal anthropometry?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raneen AS,
|
||
Lina DS,
|
||
Safrai M,
|
||
Matan L,
|
||
Porat S</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Dec;35(25):9792-9799.
|
||
Epub 2022 Mar 25
|
||
doi: 10.1080/14767058.2022.2053843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35337236" target="_blank">35337236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32938245">Growth patterns and cardiovascular abnormalities in SGA fetuses: 3. Late, adaptive and recovering growth restriction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deter RL,
|
||
Lee W,
|
||
Dicker P,
|
||
Tully EC,
|
||
Cody F,
|
||
Malone FD,
|
||
Flood KM</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Jul;35(14):2808-2817.
|
||
Epub 2020 Sep 16
|
||
doi: 10.1080/14767058.2020.1803262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32938245" target="_blank">32938245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21163423">Management of infants born to mothers with gestational diabetes. Paediatric environment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitanchez D</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab</span>
|
||
2010 Dec;36(6 Pt 2):587-94.
|
||
doi: 10.1016/j.diabet.2010.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21163423" target="_blank">21163423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3291617">A case of chondrodystrophic dwarfism in the Italian late Upper Paleolithic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frayer DW,
|
||
Macchiarelli R,
|
||
Mussi M</span><br />
|
||
<span class="medgenPMjournal">Am J Phys Anthropol</span>
|
||
1988 Apr;75(4):549-65.
|
||
doi: 10.1002/ajpa.1330750412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3291617" target="_blank">3291617</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3941119">Tears of the anterior cruciate ligament in adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipscomb AB,
|
||
Anderson AF</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1986 Jan;68(1):19-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3941119" target="_blank">3941119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20abnormality%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 (45)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35522831">Impact of childhood growth and obesity curves in school health examinations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takaya J,
|
||
Higashino H,
|
||
Takaya R,
|
||
Sakaguchi H,
|
||
Tanoue J,
|
||
Higashide T,
|
||
Moriguchi H,
|
||
Nakao M,
|
||
Shigematsu S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2022 Jan;64(1):e15182.
|
||
doi: 10.1111/ped.15182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35522831" target="_blank">35522831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27761193">Multiple hereditary exostoses: A pseudoaneurysm masquerading as tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trivedi H,
|
||
Link TM,
|
||
O'Donnell RJ,
|
||
Horvai AE,
|
||
Motamedi D</span><br />
|
||
<span class="medgenPMjournal">J Radiol Case Rep</span>
|
||
2016 Aug;10(8):50-59.
|
||
Epub 2016 Aug 31
|
||
doi: 10.3941/jrcr.v10i8.2849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27761193" target="_blank">27761193</a><a href="/pmc/articles/PMC5065283" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9259282">PHOG, a candidate gene for involvement in the short stature of Turner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellison JW,
|
||
Wardak Z,
|
||
Young MF,
|
||
Gehron Robey P,
|
||
Laig-Webster M,
|
||
Chiong W</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1997 Aug;6(8):1341-7.
|
||
doi: 10.1093/hmg/6.8.1341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9259282" target="_blank">9259282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1544242">Sonographic diagnosis of IUGR-macrosomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmer EZ,
|
||
Divon MY</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1992 Mar;35(1):172-84.
|
||
doi: 10.1097/00003081-199203000-00022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1544242" target="_blank">1544242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3934213">Use of ultrasound in the detection of macrosomia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deter RL,
|
||
Hadlock FP</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
1985 Oct;13(8):519-24.
|
||
doi: 10.1002/1097-0096(199010)13:8<519::aid-jcu1870130802>3.0.co;2-l.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3934213" target="_blank">3934213</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20abnormality%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 (43)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33619823">Routine third-trimester ultrasound for the detection of small-for-gestational age in low-risk pregnancies (ROTTUS study): randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wanyonyi SZ,
|
||
Orwa J,
|
||
Ozelle H,
|
||
Martinez J,
|
||
Atsali E,
|
||
Vinayak S,
|
||
Temmerman M,
|
||
Figueras F</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2021 Jun;57(6):910-916.
|
||
doi: 10.1002/uog.23618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33619823" target="_blank">33619823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27934561">Various Regimens of Total Body Irradiation for Hematopoietic Stem Cell Transplant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ishibashi N,
|
||
Maebayashi T,
|
||
Aizawa T,
|
||
Sakaguchi M,
|
||
Abe O,
|
||
Sakanishi K,
|
||
Endoh Y,
|
||
Saito T,
|
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Kawamori J,
|
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Tanaka Y</span><br />
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<span class="medgenPMjournal">Exp Clin Transplant</span>
|
||
2016 Dec;14(6):670-675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27934561" target="_blank">27934561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26561063">Autism: Pathophysiology and Promising Herbal Remedies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahmani M,
|
||
Sarrafchi A,
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Shirzad H,
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Rafieian-Kopaei M</span><br />
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<span class="medgenPMjournal">Curr Pharm Des</span>
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2016;22(3):277-85.
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doi: 10.2174/1381612822666151112151529.
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<span class="bold">PMID: </span><a href="/pubmed/26561063" target="_blank">26561063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16721107">Screening for fetal growth restriction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chauhan SP,
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Magann EF</span><br />
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<span class="medgenPMjournal">Clin Obstet Gynecol</span>
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2006 Jun;49(2):284-94.
|
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doi: 10.1097/00003081-200606000-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16721107" target="_blank">16721107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10696546">Assessing growth patterns--routine but sometimes overlooked.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen RS,
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Shiffman RN</span><br />
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<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
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2000 Feb;39(2):97-102.
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doi: 10.1177/000992280003900204.
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<span class="bold">PMID: </span><a href="/pubmed/10696546" target="_blank">10696546</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20abnormality%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35337236">Is birthweight influenced equally by maternal and paternal anthropometry?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raneen AS,
|
||
Lina DS,
|
||
Safrai M,
|
||
Matan L,
|
||
Porat S</span><br />
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||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Dec;35(25):9792-9799.
|
||
Epub 2022 Mar 25
|
||
doi: 10.1080/14767058.2022.2053843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35337236" target="_blank">35337236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16254884">Z-velocity in screening for intrauterine growth restriction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mondry A,
|
||
Pengbo L,
|
||
Loh M,
|
||
Mongelli M</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2005 Nov;26(6):634-8.
|
||
doi: 10.1002/uog.2598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16254884" target="_blank">16254884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9259282">PHOG, a candidate gene for involvement in the short stature of Turner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellison JW,
|
||
Wardak Z,
|
||
Young MF,
|
||
Gehron Robey P,
|
||
Laig-Webster M,
|
||
Chiong W</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1997 Aug;6(8):1341-7.
|
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doi: 10.1093/hmg/6.8.1341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9259282" target="_blank">9259282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2065496">The foot in Apert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mah J,
|
||
Kasser J,
|
||
Upton J</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
1991 Apr;18(2):391-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2065496" target="_blank">2065496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3941119">Tears of the anterior cruciate ligament in adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipscomb AB,
|
||
Anderson AF</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
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||
1986 Jan;68(1):19-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3941119" target="_blank">3941119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20abnormality%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36336004">Prominent Intrapulmonary Shunt Vessels and Altered Lung Development in Infants With Sudden Unexplained Infant Death.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galambos C,
|
||
Bush D,
|
||
Abman SH,
|
||
Caplan M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2023 Apr;255:214-219.e1.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1016/j.jpeds.2022.10.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36336004" target="_blank">36336004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35337236">Is birthweight influenced equally by maternal and paternal anthropometry?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raneen AS,
|
||
Lina DS,
|
||
Safrai M,
|
||
Matan L,
|
||
Porat S</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Dec;35(25):9792-9799.
|
||
Epub 2022 Mar 25
|
||
doi: 10.1080/14767058.2022.2053843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35337236" target="_blank">35337236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32938245">Growth patterns and cardiovascular abnormalities in SGA fetuses: 3. Late, adaptive and recovering growth restriction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deter RL,
|
||
Lee W,
|
||
Dicker P,
|
||
Tully EC,
|
||
Cody F,
|
||
Malone FD,
|
||
Flood KM</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Jul;35(14):2808-2817.
|
||
Epub 2020 Sep 16
|
||
doi: 10.1080/14767058.2020.1803262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32938245" target="_blank">32938245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16254884">Z-velocity in screening for intrauterine growth restriction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mondry A,
|
||
Pengbo L,
|
||
Loh M,
|
||
Mongelli M</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2005 Nov;26(6):634-8.
|
||
doi: 10.1002/uog.2598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16254884" target="_blank">16254884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2065496">The foot in Apert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mah J,
|
||
Kasser J,
|
||
Upton J</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
1991 Apr;18(2):391-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2065496" target="_blank">2065496</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20abnormality%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 (31)</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/36914003">Long term complications of costochondral graft reconstruction in temporomandibular joint ankylosis of the young- a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadde KR,
|
||
Nadkarni S,
|
||
Mathai P</span><br />
|
||
<span class="medgenPMjournal">J Stomatol Oral Maxillofac Surg</span>
|
||
2023 Oct;124(5):101437.
|
||
Epub 2023 Mar 11
|
||
doi: 10.1016/j.jormas.2023.101437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36914003" target="_blank">36914003</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Growth%20abnormality%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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<div class=" bottom">
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|
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</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
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|
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<!-- MedGen supplemental column starts here -->
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0262361%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0262361%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0262361%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Growth%20abnormality" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22growth%20abnormality%22%5Btiab%3A~0%5D)%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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Growth%20abnormality" target="_blank">MedlinePlus</a></li></ul></div>
|
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<div class="portlet brieflink">
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<div class="portlet_head">
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<li>
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<a href="/pubmed/clinical?term=Growth%20abnormality" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Growth%20abnormality%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=808205" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0262361[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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</li>
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||
<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0262361[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=808205" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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