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<meta name="keywords" content="C1862151, bda1, brachydactyly farabee type, brachydactyly type a1, brachydactyly, farabee type, brachydactyly, type a1, disease or syndrome, farabee type brachydactyly, farabee-type brachydactyly, ihh, short stature with nonspecific skeletal abnormalities 2, type a1 brachydactyly, 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="Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by shortening of the middle phalanges of the digits of the hand, with or without symphalangism. Mild short stature is often present. Considerable inter- and intrafamilial variability has been observed, with all or only some digits affected, and complete absence of the middle phalanx in some cases. Metacarpals may also be shortened, and clinodactyly, camptodactyly, and ulnar deviation have been reported. Some patients exhibit abnormalities of the feet (Zhu et al., 2007; Lodder et al., 2008; Byrnes et al., 2009; Vasques et al., 2018). Genetic Heterogeneity of Brachydactyly Type A1 BDA1B (607004) has been mapped to chromosome 5. BDA1C (615072) is caused by mutation in the GDF5 gene (601146) on chromosome 20q11. BDA1D (616849) is caused by mutation in the BMPR1B gene (603248) on chromosome 4q22." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=354673
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ConceptID=C1862151
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Brachydactyly type A1<span class="h1sub">(BDA1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354673</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:">C1862151</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>Brachydactyly Farabee type; SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 2</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Brachydactyly type A1 (715720006); Brachydactyly Farabee type (715720006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="IHH - ID: 3549 - NCBI Gene" href="/gene/3549" class="medgenPMinfo">IHH</a> (2q35)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/8200">GDF5</a>, <a target="_blank" href="/gene/658">BMPR1B</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009371">HP:0009371</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007215" target="_blank">MONDO:0007215</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/112500" target="_blank">112500</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=93388">ORPHA93388</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<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">Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by shortening of the middle phalanges of the digits of the hand, with or without symphalangism. Mild short stature is often present. Considerable inter- and intrafamilial variability has been observed, with all or only some digits affected, and complete absence of the middle phalanx in some cases. Metacarpals may also be shortened, and clinodactyly, camptodactyly, and ulnar deviation have been reported. Some patients exhibit abnormalities of the feet (Zhu et al., 2007; Lodder et al., 2008; Byrnes et al., 2009; Vasques et al., 2018). Genetic Heterogeneity of Brachydactyly Type A1 BDA1B (607004) has been mapped to chromosome 5. BDA1C (615072) is caused by mutation in the GDF5 gene (601146) on chromosome 20q11. BDA1D (616849) is caused by mutation in the BMPR1B gene (603248) on chromosome 4q22. [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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75535"><div><strong>Broad palm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75535</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.">C0264142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75535">Feature record</a> | <a href="/medgen?term=%22Broad%20palm%22%5BClinical%20Features%5D%20OR%2075535%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_326590"><div><strong>Short distal phalanx of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326590</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.">C1839829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326590">Feature record</a> | <a href="/medgen?term=%22Short%20distal%20phalanx%20of%20finger%22%5BClinical%20Features%5D%20OR%20326590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334684"><div><strong>Short palm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334684</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.">C1843108</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short palm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334684">Feature record</a> | <a href="/medgen?term=%22Short%20palm%22%5BClinical%20Features%5D%20OR%20334684%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335012"><div><strong>Radial deviation of the 2nd finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335012</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.">C1844709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Displacement of the 2nd finger towards the radial side.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335012">Feature record</a> | <a href="/medgen?term=%22Radial%20deviation%20of%20the%202nd%20finger%22%5BClinical%20Features%5D%20OR%20335012%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</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.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340786"><div><strong>Short proximal phalanx of thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340786</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.">C1855091</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340786">Feature record</a> | <a href="/medgen?term=%22Short%20proximal%20phalanx%20of%20thumb%22%5BClinical%20Features%5D%20OR%20340786%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350011"><div><strong>Absent distal interphalangeal creases</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350011</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.">C1861349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of the distal interphalangeal flexion creases of the fingers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350011">Feature record</a> | <a href="/medgen?term=%22Absent%20distal%20interphalangeal%20creases%22%5BClinical%20Features%5D%20OR%20350011%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_354674"><div><strong>Aplasia/Hypoplasia of the middle phalanges of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354674</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.">C1862152</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354674">Feature record</a> | <a href="/medgen?term=%22Aplasia%2FHypoplasia%20of%20the%20middle%20phalanges%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%20354674%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350606"><div><strong>Proportionate shortening of all digits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350606</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.">C1862157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350606">Feature record</a> | <a href="/medgen?term=%22Proportionate%20shortening%20of%20all%20digits%22%5BClinical%20Features%5D%20OR%20350606%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_396305"><div><strong>Short proximal phalanx of hallux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396305</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.">C1862159</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment (hypoplasia) of the proximal phalanx of big toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396305">Feature record</a> | <a href="/medgen?term=%22Short%20proximal%20phalanx%20of%20hallux%22%5BClinical%20Features%5D%20OR%20396305%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869548"><div><strong>Aplasia/Hypoplasia of the middle phalanges of the toes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869548</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.">C4023976</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869548">Feature record</a> | <a href="/medgen?term=%22Aplasia%2FHypoplasia%20of%20the%20middle%20phalanges%20of%20the%20toes%22%5BClinical%20Features%5D%20OR%20869548%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869914"><div><strong>Radial deviation of the 3rd finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869914</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.">C4024345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869914">Feature record</a> | <a href="/medgen?term=%22Radial%20deviation%20of%20the%203rd%20finger%22%5BClinical%20Features%5D%20OR%20869914%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870042"><div><strong>Radial deviation of the 4th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870042</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.">C4024473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Displacement of the 4th finger towards the radial side (i.e., towards the thumb).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870042">Feature record</a> | <a href="/medgen?term=%22Radial%20deviation%20of%20the%204th%20finger%22%5BClinical%20Features%5D%20OR%20870042%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870626"><div><strong>Slender metacarpals</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870626</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.">C4025077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased width of the metacarpal bones (that is, reduced diameter).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870626">Feature record</a> | <a href="/medgen?term=%22Slender%20metacarpals%22%5BClinical%20Features%5D%20OR%20870626%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892976"><div><strong>Thin proximal phalanges with broad epiphyses of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892976</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.">C4025079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892976">Feature record</a> | <a href="/medgen?term=%22Thin%20proximal%20phalanges%20with%20broad%20epiphyses%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%20892976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870636"><div><strong>Broad metacarpal epiphyses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870636</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.">C4025088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased side-to-side width of the metacarpal epiphyses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870636">Feature record</a> | <a href="/medgen?term=%22Broad%20metacarpal%20epiphyses%22%5BClinical%20Features%5D%20OR%20870636%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870783"><div><strong>Flattened metatarsal heads</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870783</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.">C4025240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally flat shape of the heads of the metatarsal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870783">Feature record</a> | <a href="/medgen?term=%22Flattened%20metatarsal%20heads%22%5BClinical%20Features%5D%20OR%20870783%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350607"><div><strong>Distal symphalangism of hands</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350607</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.">C1862158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350607">Feature record</a> | <a href="/medgen?term=%22Distal%20symphalangism%20of%20hands%22%5BClinical%20Features%5D%20OR%20350607%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent distal interphalangeal creases</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_354674" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia/Hypoplasia of the middle phalanges of the hand</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia/Hypoplasia of the middle phalanges of the toes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad metacarpal epiphyses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad palm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flattened metatarsal heads</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350606" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proportionate shortening of all digits</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial deviation of the 2nd finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial deviation of the 3rd finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial deviation of the 4th finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short distal phalanx of finger</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_334684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short palm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_396305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short proximal phalanx of hallux</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short proximal phalanx of thumb</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender metacarpals</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin proximal phalanges with broad epiphyses of the hand</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_350607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal symphalangism of hands</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_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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=C1862151[DISCUI]&test_type=Clinical" ref="ncbi_uid=354673">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=354673" target="_blank" href="/omim/112500">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=354673" ref="ncbi_uid=354673">V</a></span></span><span class="TLline">Brachydactyly type A1</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN295859[DISCUI]&test_type=Clinical" ref="ncbi_uid=979170">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=979170" ref="ncbi_uid=979170">V</a></span></span><span class="TLline"><a href="/medgen/979170" ref="tree=GTR&ncbi_uid=979170&link_uid=979170" title="View MedGen record for 'Brachydactyly type A1A'">Brachydactyly type A1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339652" target="_blank" href="/omim/607004">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/339652" ref="tree=GTR&ncbi_uid=339652&link_uid=339652" title="View MedGen record for 'Brachydactyly type A1B'">Brachydactyly type A1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554446[DISCUI]&test_type=Clinical" ref="ncbi_uid=767360">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767360" target="_blank" href="/omim/601146">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=767360" ref="ncbi_uid=767360">V</a></span></span><span class="TLline"><a href="/medgen/767360" ref="tree=GTR&ncbi_uid=767360&link_uid=767360" title="View MedGen record for 'Brachydactyly type A1C'">Brachydactyly type A1C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225183[DISCUI]&test_type=Clinical" ref="ncbi_uid=903193">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=903193" target="_blank" href="/omim/603248">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=903193" ref="ncbi_uid=903193">V</a></span></span><span class="TLline"><a href="/medgen/903193" ref="tree=GTR&ncbi_uid=903193&link_uid=903193" title="View MedGen record for 'Brachydactyly type A1D'">Brachydactyly type A1D</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843165" ref="tree=MeSH" title="MedGen record for Dysostosis with brachydactyly without extraskeletal manifestations">Dysostosis with brachydactyly without extraskeletal manifestations</a></span><ul><li><span class="matched_ds">Brachydactyly type A1</span><ul><li><span class="TLline"><a href="/medgen/979170" ref="tree=MeSH" title="MedGen record for Brachydactyly type A1A">Brachydactyly type A1A</a></span></li><li><span class="TLline"><a href="/medgen/339652" ref="tree=MeSH" title="MedGen record for Brachydactyly type A1B">Brachydactyly type A1B</a></span></li><li><span class="TLline"><a href="/medgen/767360" ref="tree=MeSH" title="MedGen record for Brachydactyly type A1C">Brachydactyly type A1C</a></span></li><li><span class="TLline"><a href="/medgen/903193" ref="tree=MeSH" title="MedGen record for Brachydactyly type A1D">Brachydactyly type A1D</a></span></li></ul></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=12311&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Brachydactyly type A1</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_325097"><div><strong>Eiken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325097</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.">C1838779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325097">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396073"><div><strong>Thumb stiffness-brachydactyly-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396073</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.">C1861166</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396073">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eiken syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thumb stiffness-brachydactyly-intellectual disability syndrome</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/32311039">Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sentchordi-Montané L,
|
||
Benito-Sanz S,
|
||
Aza-Carmona M,
|
||
Pereda A,
|
||
Parrón-Pajares M,
|
||
de la Torre C,
|
||
Vasques GA,
|
||
Funari MFA,
|
||
Travessa AM,
|
||
Dias P,
|
||
Suarez-Ortega L,
|
||
González-Buitrago J,
|
||
Portillo-Najera NE,
|
||
Llano-Rivas I,
|
||
Martín-Frías M,
|
||
Ramírez-Fernández J,
|
||
Sánchez Del Pozo J,
|
||
Garzón-Lorenzo L,
|
||
Martos-Moreno GA,
|
||
Alfaro-Iznaola C,
|
||
Mulero-Collantes I,
|
||
Ruiz-Ocaña P,
|
||
Casano-Sancho P,
|
||
Portela A,
|
||
Ruiz-Pérez L,
|
||
Del Pozo A,
|
||
Vallespín E,
|
||
Solís M,
|
||
Lerario AM,
|
||
González-Casado I,
|
||
Ros-Pérez P,
|
||
Pérez de Nanclares G,
|
||
Jorge AAL,
|
||
Heath KE</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Aug 1;105(8)
|
||
doi: 10.1210/clinem/dgaa218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32311039" target="_blank">32311039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30651074">p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen L,
|
||
Ma G,
|
||
Shi Y,
|
||
Ruan Y,
|
||
Yang X,
|
||
Wu X,
|
||
Xiong Y,
|
||
Wan C,
|
||
Yang C,
|
||
Cai L,
|
||
Xiong L,
|
||
Gong X,
|
||
He L,
|
||
Qin S</span><br />
|
||
<span class="medgenPMjournal">BMC Genet</span>
|
||
2019 Jan 16;20(1):10.
|
||
doi: 10.1186/s12863-018-0697-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30651074" target="_blank">30651074</a><a href="/pmc/articles/PMC6335781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155992">IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasques GA,
|
||
Funari MFA,
|
||
Ferreira FM,
|
||
Aza-Carmona M,
|
||
Sentchordi-Montané L,
|
||
Barraza-García J,
|
||
Lerario AM,
|
||
Yamamoto GL,
|
||
Naslavsky MS,
|
||
Duarte YAO,
|
||
Bertola DR,
|
||
Heath KE,
|
||
Jorge AAL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2018 Feb 1;103(2):604-614.
|
||
doi: 10.1210/jc.2017-02026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155992" target="_blank">29155992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15225411">Answering a century old riddle: brachydactyly type A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao B,
|
||
He L</span><br />
|
||
<span class="medgenPMjournal">Cell Res</span>
|
||
2004 Jun;14(3):179-87.
|
||
doi: 10.1038/sj.cr.7290218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15225411" target="_blank">15225411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10745048">Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armour CM,
|
||
Bulman DE,
|
||
Hunter AG</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2000 Apr;37(4):292-6.
|
||
doi: 10.1136/jmg.37.4.292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10745048" target="_blank">10745048</a><a href="/pmc/articles/PMC1734558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly%20type%20A1%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/34315464">Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozaki N,
|
||
Okuda H,
|
||
Kobayashi H,
|
||
Harada KH,
|
||
Inoue S,
|
||
Youssefian S,
|
||
Koizumi A</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Jul 27;14(1):190.
|
||
doi: 10.1186/s12920-021-01042-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34315464" target="_blank">34315464</a><a href="/pmc/articles/PMC8314500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32311039">Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sentchordi-Montané L,
|
||
Benito-Sanz S,
|
||
Aza-Carmona M,
|
||
Pereda A,
|
||
Parrón-Pajares M,
|
||
de la Torre C,
|
||
Vasques GA,
|
||
Funari MFA,
|
||
Travessa AM,
|
||
Dias P,
|
||
Suarez-Ortega L,
|
||
González-Buitrago J,
|
||
Portillo-Najera NE,
|
||
Llano-Rivas I,
|
||
Martín-Frías M,
|
||
Ramírez-Fernández J,
|
||
Sánchez Del Pozo J,
|
||
Garzón-Lorenzo L,
|
||
Martos-Moreno GA,
|
||
Alfaro-Iznaola C,
|
||
Mulero-Collantes I,
|
||
Ruiz-Ocaña P,
|
||
Casano-Sancho P,
|
||
Portela A,
|
||
Ruiz-Pérez L,
|
||
Del Pozo A,
|
||
Vallespín E,
|
||
Solís M,
|
||
Lerario AM,
|
||
González-Casado I,
|
||
Ros-Pérez P,
|
||
Pérez de Nanclares G,
|
||
Jorge AAL,
|
||
Heath KE</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Aug 1;105(8)
|
||
doi: 10.1210/clinem/dgaa218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32311039" target="_blank">32311039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25758993">Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Racacho L,
|
||
Byrnes AM,
|
||
MacDonald H,
|
||
Dranse HJ,
|
||
Nikkel SM,
|
||
Allanson J,
|
||
Rosser E,
|
||
Underhill TM,
|
||
Bulman DE</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Dec;23(12):1640-5.
|
||
Epub 2015 Mar 11
|
||
doi: 10.1038/ejhg.2015.38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25758993" target="_blank">25758993</a><a href="/pmc/articles/PMC4795202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22406540">Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palka C,
|
||
Antonucci I,
|
||
Alfonsi M,
|
||
Bedeschi MF,
|
||
Mohn A,
|
||
Lalatta F,
|
||
Chiarelli F,
|
||
Palka G,
|
||
Stuppia L</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2012 Jul;21(3):137-140.
|
||
doi: 10.1097/MCD.0b013e328350af23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22406540" target="_blank">22406540</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21537345">Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma G,
|
||
Yu J,
|
||
Xiao Y,
|
||
Chan D,
|
||
Gao B,
|
||
Hu J,
|
||
He Y,
|
||
Guo S,
|
||
Zhou J,
|
||
Zhang L,
|
||
Gao L,
|
||
Zhang W,
|
||
Kang Y,
|
||
Cheah KS,
|
||
Feng G,
|
||
Guo X,
|
||
Wang Y,
|
||
Zhou CZ,
|
||
He L</span><br />
|
||
<span class="medgenPMjournal">Cell Res</span>
|
||
2011 Sep;21(9):1343-57.
|
||
Epub 2011 May 3
|
||
doi: 10.1038/cr.2011.76.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21537345" target="_blank">21537345</a><a href="/pmc/articles/PMC3193471" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly%20type%20A1%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155992">IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasques GA,
|
||
Funari MFA,
|
||
Ferreira FM,
|
||
Aza-Carmona M,
|
||
Sentchordi-Montané L,
|
||
Barraza-García J,
|
||
Lerario AM,
|
||
Yamamoto GL,
|
||
Naslavsky MS,
|
||
Duarte YAO,
|
||
Bertola DR,
|
||
Heath KE,
|
||
Jorge AAL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2018 Feb 1;103(2):604-614.
|
||
doi: 10.1210/jc.2017-02026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155992" target="_blank">29155992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25696018">Mutation screening in candidate genes in four Chinese brachydactyly families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dong S,
|
||
Wang Y,
|
||
Tao S,
|
||
Zheng F</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Lab Sci</span>
|
||
2015 Winter;45(1):94-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25696018" target="_blank">25696018</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly%20type%20A1%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155992">IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasques GA,
|
||
Funari MFA,
|
||
Ferreira FM,
|
||
Aza-Carmona M,
|
||
Sentchordi-Montané L,
|
||
Barraza-García J,
|
||
Lerario AM,
|
||
Yamamoto GL,
|
||
Naslavsky MS,
|
||
Duarte YAO,
|
||
Bertola DR,
|
||
Heath KE,
|
||
Jorge AAL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2018 Feb 1;103(2):604-614.
|
||
doi: 10.1210/jc.2017-02026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155992" target="_blank">29155992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25758993">Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Racacho L,
|
||
Byrnes AM,
|
||
MacDonald H,
|
||
Dranse HJ,
|
||
Nikkel SM,
|
||
Allanson J,
|
||
Rosser E,
|
||
Underhill TM,
|
||
Bulman DE</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Dec;23(12):1640-5.
|
||
Epub 2015 Mar 11
|
||
doi: 10.1038/ejhg.2015.38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25758993" target="_blank">25758993</a><a href="/pmc/articles/PMC4795202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20683927">Mutations in GDF5 presenting as semidominant brachydactyly A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byrnes AM,
|
||
Racacho L,
|
||
Nikkel SM,
|
||
Xiao F,
|
||
MacDonald H,
|
||
Underhill TM,
|
||
Bulman DE</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2010 Oct;31(10):1155-62.
|
||
doi: 10.1002/humu.21338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20683927" target="_blank">20683927</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly%20type%20A1%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32311039">Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sentchordi-Montané L,
|
||
Benito-Sanz S,
|
||
Aza-Carmona M,
|
||
Pereda A,
|
||
Parrón-Pajares M,
|
||
de la Torre C,
|
||
Vasques GA,
|
||
Funari MFA,
|
||
Travessa AM,
|
||
Dias P,
|
||
Suarez-Ortega L,
|
||
González-Buitrago J,
|
||
Portillo-Najera NE,
|
||
Llano-Rivas I,
|
||
Martín-Frías M,
|
||
Ramírez-Fernández J,
|
||
Sánchez Del Pozo J,
|
||
Garzón-Lorenzo L,
|
||
Martos-Moreno GA,
|
||
Alfaro-Iznaola C,
|
||
Mulero-Collantes I,
|
||
Ruiz-Ocaña P,
|
||
Casano-Sancho P,
|
||
Portela A,
|
||
Ruiz-Pérez L,
|
||
Del Pozo A,
|
||
Vallespín E,
|
||
Solís M,
|
||
Lerario AM,
|
||
González-Casado I,
|
||
Ros-Pérez P,
|
||
Pérez de Nanclares G,
|
||
Jorge AAL,
|
||
Heath KE</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Aug 1;105(8)
|
||
doi: 10.1210/clinem/dgaa218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32311039" target="_blank">32311039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155992">IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasques GA,
|
||
Funari MFA,
|
||
Ferreira FM,
|
||
Aza-Carmona M,
|
||
Sentchordi-Montané L,
|
||
Barraza-García J,
|
||
Lerario AM,
|
||
Yamamoto GL,
|
||
Naslavsky MS,
|
||
Duarte YAO,
|
||
Bertola DR,
|
||
Heath KE,
|
||
Jorge AAL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2018 Feb 1;103(2):604-614.
|
||
doi: 10.1210/jc.2017-02026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155992" target="_blank">29155992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25758993">Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Racacho L,
|
||
Byrnes AM,
|
||
MacDonald H,
|
||
Dranse HJ,
|
||
Nikkel SM,
|
||
Allanson J,
|
||
Rosser E,
|
||
Underhill TM,
|
||
Bulman DE</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Dec;23(12):1640-5.
|
||
Epub 2015 Mar 11
|
||
doi: 10.1038/ejhg.2015.38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25758993" target="_blank">25758993</a><a href="/pmc/articles/PMC4795202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22234151">A large duplication involving the IHH locus mimics acrocallosal syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuksel-Apak M,
|
||
Bögershausen N,
|
||
Pawlik B,
|
||
Li Y,
|
||
Apak S,
|
||
Uyguner O,
|
||
Milz E,
|
||
Nürnberg G,
|
||
Karaman B,
|
||
Gülgören A,
|
||
Grzeschik KH,
|
||
Nürnberg P,
|
||
Kayserili H,
|
||
Wollnik B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):639-44.
|
||
Epub 2012 Jan 11
|
||
doi: 10.1038/ejhg.2011.250.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22234151" target="_blank">22234151</a><a href="/pmc/articles/PMC3355252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19464397">Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stattin EL,
|
||
Lindén B,
|
||
Lönnerholm T,
|
||
Schuster J,
|
||
Dahl N</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2009 Sep-Oct;52(5):297-302.
|
||
Epub 2009 May 21
|
||
doi: 10.1016/j.ejmg.2009.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19464397" target="_blank">19464397</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly%20type%20A1%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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1862151%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C1862151%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C1862151%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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