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<meta name="keywords" content="C1864356, acromesomelic dwarfism maroteux type, acromesomelic dysplasia 1, acromesomelic dysplasia 1, maroteaux type, acromesomelic dysplasia maroteaux type, acromesomelic dysplasia, maroteaux type, amd1, amdm, disease or syndrome, npr2, st. helena dysplasia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton. Acromesomelic dysplasia-1 (AMD1) is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000). Genetic Heterogeneity of Acromesomelic Dysplasia Additional autosomal recessive forms of acromesomelic dysplasia include acromesomelic dysplasia-2A (200700), -2B (228900), and -2C (201250), all caused by mutation in the GDF5 gene (601146) on chromosome 20q11; AMD3 (200700), caused by mutation in the BMPR1B gene (603248) on chromosome 4q22; and AMD4 (619636), caused by mutation in the PRKG2 gene (601591) on chromosome 4q21. An autosomal dominant form of acromesomelic dysplasia has also been reported (see 112910)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=355199
|
||
ConceptID=C1864356
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Acromesomelic dysplasia 1, Maroteaux type<span class="h1sub">(AMD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355199</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:">C1864356</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Acromesomelic dwarfism Maroteux type; ACROMESOMELIC DYSPLASIA 1; Acromesomelic Dysplasia, Maroteaux Type; AMD1; ST. HELENA DYSPLASIA</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Acromesomelic dysplasia Maroteaux type (718559000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NPR2 - ID: 4882 - NCBI Gene" href="/gene/4882" class="medgenPMinfo">NPR2</a> (9p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011275" target="_blank">MONDO:0011275</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/602875" target="_blank">602875</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=40">ORPHA40</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton. Acromesomelic dysplasia-1 (AMD1) is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000). Genetic Heterogeneity of Acromesomelic Dysplasia Additional autosomal recessive forms of acromesomelic dysplasia include acromesomelic dysplasia-2A (200700), -2B (228900), and -2C (201250), all caused by mutation in the GDF5 gene (601146) on chromosome 20q11; AMD3 (200700), caused by mutation in the BMPR1B gene (603248) on chromosome 4q22; and AMD4 (619636), caused by mutation in the PRKG2 gene (601591) on chromosome 4q21. An autosomal dominant form of acromesomelic dysplasia has also been reported (see 112910). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_672334"><div><strong>Hypoplasia of the radius</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>672334</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.">C0685381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the radius.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/672334">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20radius%22%5BClinical%20Features%5D%20OR%20672334%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163753"><div><strong>Short phalanx of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163753</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.">C0877165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short (hypoplastic) phalanx of finger, affecting one or more phalanges.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163753">Feature record</a> | <a href="/medgen?term=%22Short%20phalanx%20of%20finger%22%5BClinical%20Features%5D%20OR%20163753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322858"><div><strong>Short toe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322858</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.">C1836195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A toe that appears disproportionately short compared to the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322858">Feature record</a> | <a href="/medgen?term=%22Short%20toe%22%5BClinical%20Features%5D%20OR%20322858%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_330796"><div><strong>Broad metacarpals</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330796</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.">C1842229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally broad metacarpal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330796">Feature record</a> | <a href="/medgen?term=%22Broad%20metacarpals%22%5BClinical%20Features%5D%20OR%20330796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_330797"><div><strong>Broad metatarsal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330797</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.">C1842231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased side-to-side width of a metatarsal bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330797">Feature record</a> | <a href="/medgen?term=%22Broad%20metatarsal%22%5BClinical%20Features%5D%20OR%20330797%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375540"><div><strong>Broad finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375540</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.">C1844906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased width of a non-thumb digit of the hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375540">Feature record</a> | <a href="/medgen?term=%22Broad%20finger%22%5BClinical%20Features%5D%20OR%20375540%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340809"><div><strong>Broad phalanx</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340809</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.">C1855185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased side-to-side width of one or more phalanges of the fingers or toes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340809">Feature record</a> | <a href="/medgen?term=%22Broad%20phalanx%22%5BClinical%20Features%5D%20OR%20340809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347136"><div><strong>Radial bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347136</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.">C1859399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bending or abnormal curvature of the radius.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347136">Feature record</a> | <a href="/medgen?term=%22Radial%20bowing%22%5BClinical%20Features%5D%20OR%20347136%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350410"><div><strong>Acromesomelia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350410</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.">C1864365</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Small hands and feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350410">Feature record</a> | <a href="/medgen?term=%22Acromesomelia%22%5BClinical%20Features%5D%20OR%20350410%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400514"><div><strong>Long hallux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400514</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.">C1864375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased length of the big toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400514">Feature record</a> | <a href="/medgen?term=%22Long%20hallux%22%5BClinical%20Features%5D%20OR%20400514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_401158"><div><strong>Limited elbow extension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401158</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.">C1867103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Limited ability to straighten the arm at the elbow joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401158">Feature record</a> | <a href="/medgen?term=%22Limited%20elbow%20extension%22%5BClinical%20Features%5D%20OR%20401158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342370"><div><strong>Disproportionate short-limb short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342370</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.">C1849937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342370">Feature record</a> | <a href="/medgen?term=%22Disproportionate%20short-limb%20short%20stature%22%5BClinical%20Features%5D%20OR%20342370%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_263149"><div><strong>Lumbar hyperlordosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>263149</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.">C1184923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal accentuation of the inward curvature of the spine in the lumbar region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/263149">Feature record</a> | <a href="/medgen?term=%22Lumbar%20hyperlordosis%22%5BClinical%20Features%5D%20OR%20263149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341358"><div><strong>Short metatarsal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341358</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341358">Feature record</a> | <a href="/medgen?term=%22Short%20metatarsal%22%5BClinical%20Features%5D%20OR%20341358%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337976"><div><strong>Flared metaphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337976</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.">C1850135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337976">Feature record</a> | <a href="/medgen?term=%22Flared%20metaphysis%22%5BClinical%20Features%5D%20OR%20337976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383679"><div><strong>Thoracolumbar kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383679</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.">C1855418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383679">Feature record</a> | <a href="/medgen?term=%22Thoracolumbar%20kyphosis%22%5BClinical%20Features%5D%20OR%20383679%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344549"><div><strong>Ovoid vertebral bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344549</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.">C1855665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344549">Feature record</a> | <a href="/medgen?term=%22Ovoid%20vertebral%20bodies%22%5BClinical%20Features%5D%20OR%20344549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341588"><div><strong>Beaking of vertebral bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341588</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.">C1856599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior tongue-like protrusions of the vertebral bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341588">Feature record</a> | <a href="/medgen?term=%22Beaking%20of%20vertebral%20bodies%22%5BClinical%20Features%5D%20OR%20341588%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347156"><div><strong>Cone-shaped epiphyses of the phalanges of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347156</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.">C1859480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347156">Feature record</a> | <a href="/medgen?term=%22Cone-shaped%20epiphyses%20of%20the%20phalanges%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%20347156%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355201"><div><strong>Lower thoracic kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355201</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.">C1864361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355201">Feature record</a> | <a href="/medgen?term=%22Lower%20thoracic%20kyphosis%22%5BClinical%20Features%5D%20OR%20355201%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350409"><div><strong>Thoracolumbar interpediculate narrowness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350409</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.">C1864364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of the distance between thoracolumbar vertebral pedicles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350409">Feature record</a> | <a href="/medgen?term=%22Thoracolumbar%20interpediculate%20narrowness%22%5BClinical%20Features%5D%20OR%20350409%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373291"><div><strong>Prominent forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373291</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.">C1837260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forward prominence of the entire forehead, due to protrusion of the frontal bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373291">Feature record</a> | <a href="/medgen?term=%22Prominent%20forehead%22%5BClinical%20Features%5D%20OR%20373291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343052"><div><strong>Short nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343052</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.">C1854114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343052">Feature record</a> | <a href="/medgen?term=%22Short%20nose%22%5BClinical%20Features%5D%20OR%20343052%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140850"><div><strong>Short nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140850</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.">C0423808</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased length of nail.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140850">Feature record</a> | <a href="/medgen?term=%22Short%20nail%22%5BClinical%20Features%5D%20OR%20140850%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870411"><div><strong>Redundant skin on fingers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870411</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.">C4024856</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loose and sagging skin of the fingers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870411">Feature record</a> | <a href="/medgen?term=%22Redundant%20skin%20on%20fingers%22%5BClinical%20Features%5D%20OR%20870411%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short nose</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromesomelia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_330796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad metacarpals</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_330797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad metatarsal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad phalanx</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_672334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the radius</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limited elbow extension</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long hallux</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial bowing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short phalanx of finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short toe</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Redundant skin on fingers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short nail</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341588" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beaking of vertebral bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-shaped epiphyses of the phalanges of the hand</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flared metaphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355201" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower thoracic kyphosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_263149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lumbar hyperlordosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovoid vertebral bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metatarsal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracolumbar interpediculate narrowness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracolumbar kyphosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342370" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disproportionate short-limb short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864356[DISCUI]&test_type=Clinical" ref="ncbi_uid=355199">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355199" target="_blank" href="/omim/108961">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355199" ref="ncbi_uid=355199">V</a></span></span><span class="TLline">Acromesomelic dysplasia 1, Maroteaux type</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1710812" ref="tree=MeSH" title="MedGen record for Acromesomelic dysplasia">Acromesomelic dysplasia</a></span><ul><li><span class="matched_ds">Acromesomelic dysplasia 1, Maroteaux type</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=1288&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Acromesomelic dysplasia 1, Maroteaux type</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37128177">Evaluation of polysomnography findings in children with genetic skeletal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nayır Büyükşahin H,
|
||
Emiralioglu N,
|
||
Simşek Kiper PÖ,
|
||
Sunman B,
|
||
Güzelkaş I,
|
||
Alboğa D,
|
||
Akgül Erdal M,
|
||
Boduroglu K,
|
||
Utine GE,
|
||
Yalcın E,
|
||
Doğru D,
|
||
Kiper N,
|
||
Ozcelik U</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2023 Oct;32(5):e13914.
|
||
Epub 2023 May 1
|
||
doi: 10.1111/jsr.13914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37128177" target="_blank">37128177</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(acromesomelic%20dysplasia%201%2C%20maroteaux%20type)%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 (1)</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/37128177">Evaluation of polysomnography findings in children with genetic skeletal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nayır Büyükşahin H,
|
||
Emiralioglu N,
|
||
Simşek Kiper PÖ,
|
||
Sunman B,
|
||
Güzelkaş I,
|
||
Alboğa D,
|
||
Akgül Erdal M,
|
||
Boduroglu K,
|
||
Utine GE,
|
||
Yalcın E,
|
||
Doğru D,
|
||
Kiper N,
|
||
Ozcelik U</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2023 Oct;32(5):e13914.
|
||
Epub 2023 May 1
|
||
doi: 10.1111/jsr.13914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37128177" target="_blank">37128177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25387261">C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olney RC,
|
||
Prickett TC,
|
||
Espiner EA,
|
||
Mackenzie WG,
|
||
Duker AL,
|
||
Ditro C,
|
||
Zabel B,
|
||
Hasegawa T,
|
||
Kitoh H,
|
||
Aylsworth AS,
|
||
Bober MB</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2015 Feb;100(2):E355-9.
|
||
Epub 2014 Nov 11
|
||
doi: 10.1210/jc.2014-2814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25387261" target="_blank">25387261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24001744">Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasques GA,
|
||
Amano N,
|
||
Docko AJ,
|
||
Funari MF,
|
||
Quedas EP,
|
||
Nishi MY,
|
||
Arnhold IJ,
|
||
Hasegawa T,
|
||
Jorge AA</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2013 Oct;98(10):E1636-44.
|
||
Epub 2013 Sep 3
|
||
doi: 10.1210/jc.2013-2142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24001744" target="_blank">24001744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21185863">Regulation and therapeutic targeting of peptide-activated receptor guanylyl cyclases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potter LR</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Ther</span>
|
||
2011 Apr;130(1):71-82.
|
||
Epub 2010 Dec 24
|
||
doi: 10.1016/j.pharmthera.2010.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21185863" target="_blank">21185863</a><a href="/pmc/articles/PMC4856048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10633136">Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faivre L,
|
||
Le Merrer M,
|
||
Megarbane A,
|
||
Gilbert B,
|
||
Mortier G,
|
||
Cusin V,
|
||
Munnich A,
|
||
Maroteaux P,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2000 Jan;37(1):52-4.
|
||
doi: 10.1136/jmg.37.1.52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10633136" target="_blank">10633136</a><a href="/pmc/articles/PMC1734441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%201%2C%20Maroteaux%20type%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37128177">Evaluation of polysomnography findings in children with genetic skeletal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nayır Büyükşahin H,
|
||
Emiralioglu N,
|
||
Simşek Kiper PÖ,
|
||
Sunman B,
|
||
Güzelkaş I,
|
||
Alboğa D,
|
||
Akgül Erdal M,
|
||
Boduroglu K,
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Yalcın E,
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<span class="bold">PMID: </span><a href="/pubmed/37128177" target="_blank">37128177</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kamil G,
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<div class="nl"><a target="_blank" href="/pubmed/23610868">Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kurt F,
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<div class="nl"><a target="_blank" href="/pubmed/33238275">Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arya VB,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%201%2C%20Maroteaux%20type%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37128177">Evaluation of polysomnography findings in children with genetic skeletal disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nayır Büyükşahin H,
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Emiralioglu N,
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Simşek Kiper PÖ,
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Sunman B,
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Güzelkaş I,
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Alboğa D,
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Akgül Erdal M,
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Boduroglu K,
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Utine GE,
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Yalcın E,
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Doğru D,
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Kiper N,
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Ozcelik U</span><br />
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<span class="medgenPMjournal">J Sleep Res</span>
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2023 Oct;32(5):e13914.
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Epub 2023 May 1
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doi: 10.1111/jsr.13914.
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<span class="bold">PMID: </span><a href="/pubmed/37128177" target="_blank">37128177</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26567084">Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
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<span class="bold">PMID: </span><a href="/pubmed/26567084" target="_blank">26567084</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%201%2C%20Maroteaux%20type%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37128177">Evaluation of polysomnography findings in children with genetic skeletal disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nayır Büyükşahin H,
|
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Emiralioglu N,
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Simşek Kiper PÖ,
|
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Sunman B,
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Güzelkaş I,
|
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Alboğa D,
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Akgül Erdal M,
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Boduroglu K,
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Utine GE,
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Yalcın E,
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Doğru D,
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Kiper N,
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Ozcelik U</span><br />
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<span class="medgenPMjournal">J Sleep Res</span>
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2023 Oct;32(5):e13914.
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Epub 2023 May 1
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doi: 10.1111/jsr.13914.
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<span class="bold">PMID: </span><a href="/pubmed/37128177" target="_blank">37128177</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32720985">Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hanley PC,
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Kanwar HS,
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<span class="bold">PMID: </span><a href="/pubmed/32720985" target="_blank">32720985</a><a href="/pmc/articles/PMC7442278" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/25387261">C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Olney RC,
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Zabel B,
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<span class="bold">PMID: </span><a href="/pubmed/25387261" target="_blank">25387261</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24001744">Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/9634515">Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kant SG,
|
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Polinkovsky A,
|
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Mundlos S,
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Zabel B,
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Thomeer RT,
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Zonderland HM,
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Shih L,
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%201%2C%20Maroteaux%20type%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1864356%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864356%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864356%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1864356%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=108961" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4882[geneid]" target="_blank">View NPR2 variations in ClinVar</a></li><li><a href="/nuccore/219521915" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=602875" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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