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<meta name="keywords" content="C4021608, brachytelephalangy, finding, shortening of all distal phalanges of the fingers, shortening of all outermost bones of the fingers, 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="Hypoplasia of all of the distal phalanx of finger." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=867248
|
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ConceptID=C4021608
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Shortening of all distal phalanges of the fingers</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867248</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.">C4021608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Brachytelephalangy</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006118">HP:0006118</a></td></tr>
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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">Hypoplasia of all of the distal phalanx of finger. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Shortening of all distal phalanges of the fingers</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/763618" ref="tree=MeSH" title="MedGen record for Abnormal digit morphology">Abnormal digit morphology</a></span><ul><li><span class="TLline"><a href="/medgen/436247" ref="tree=MeSH" title="MedGen record for Abnormal finger morphology">Abnormal finger morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867254" ref="tree=MeSH" title="MedGen record for Abnormal finger phalanx morphology">Abnormal finger phalanx morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867027" ref="tree=MeSH" title="MedGen record for Abnormal distal phalanx morphology of finger">Abnormal distal phalanx morphology of finger</a></span><ul><li><span class="TLline"><a href="/medgen/396110" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the distal phalanges of the hand">Aplasia/Hypoplasia of the distal phalanges of the hand</a></span><ul><li><span class="TLline"><a href="/medgen/326590" ref="tree=MeSH" title="MedGen record for Short distal phalanx of finger">Short distal phalanx of finger</a></span><ul><li><span class="matched_ds">Shortening of all distal phalanges of the fingers</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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_120514"><div><strong>Pallister-Hall syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120514</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.">C0265220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78557"><div><strong>Borjeson-Forssman-Lehmann syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78557</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.">C0265339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by Crawford et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78557">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371600"><div><strong>Craniosynostosis, Adelaide type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371600</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.">C1833578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371600">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383722"><div><strong>Keutel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383722</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855607</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383722">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354848"><div><strong>Cooks syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354848</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.">C1862841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; 113670) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; 613689).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354848">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481783"><div><strong>Hyperphosphatasia with intellectual disability syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481783</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.">C3280153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperphosphatasia with impaired intellectual development syndrome-3 (HPMRS3) is an autosomal recessive disorder characterized by severe intellectual disability, hypotonia with poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include more mild intellectual impairment (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481783">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766551"><div><strong>Hyperphosphatasia with intellectual disability syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766551</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.">C3553637</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2) is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of hyperphosphatasia with impaired intellectual development syndrome, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766551">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816684"><div><strong>Hyperphosphatasia with intellectual disability syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816684</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.">C3810354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4) is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, impaired intellectual development, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816684">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863932"><div><strong>Cerebellar-facial-dental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863932</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.">C4015495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863932">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906509"><div><strong>Hyperphosphatasia with intellectual disability syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906509</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.">C4225201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906509">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1744611"><div><strong>Ritscher-Schinzel syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1744611</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.">C5436883</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria (Kato et al., 2020). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1744611">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Borjeson-Forssman-Lehmann syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar-facial-dental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cooks syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis, Adelaide type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasia with intellectual disability syndrome 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasia with intellectual disability syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasia with intellectual disability syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasia with intellectual disability syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keutel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallister-Hall syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1744611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ritscher-Schinzel syndrome 3</a></div></span></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/33642092">Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komura S,
|
||
Matsumoto K,
|
||
Hirakawa A,
|
||
Akiyama H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2021 Sep;46(9):815.e1-815.e12.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jhsa.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642092" target="_blank">33642092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22695440">Distraction lengthening by callotasis of traumatically shortened bones of the hand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosny GA,
|
||
Kandel WA</span><br />
|
||
<span class="medgenPMjournal">J Trauma Acute Care Surg</span>
|
||
2012 Jun;72(6):1676-80.
|
||
doi: 10.1097/TA.0b013e31824b177a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22695440" target="_blank">22695440</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16029918">Long term follow-up of composite non-vascularized toe phalanx transfers for aphalangia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonkin MA,
|
||
Deva AK,
|
||
Filan SL</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Br</span>
|
||
2005 Oct;30(5):452-8.
|
||
doi: 10.1016/j.jhsb.2005.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16029918" target="_blank">16029918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1995669">Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cates HE,
|
||
Burgess RC</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
1991 Jan;16(1):127-32.
|
||
doi: 10.1016/s0363-5023(10)80027-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1995669" target="_blank">1995669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1695513">Proximal toe phalanx transplantation for bony stabilization and lengthening of partially aplastic digits.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buck-Gramcko D,
|
||
Pereira JA</span><br />
|
||
<span class="medgenPMjournal">Ann Chir Main Memb Super</span>
|
||
1990;9(2):107-18.
|
||
doi: 10.1016/s0753-9053(05)80487-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1695513" target="_blank">1695513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shortening%20of%20all%20distal%20phalanges%20of%20the%20fingers%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38013226">A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu Y,
|
||
Zhou Y,
|
||
Zhang Q,
|
||
Dong J,
|
||
Zheng J,
|
||
Li M,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2024 Jan;12(1):e2319.
|
||
Epub 2023 Nov 27
|
||
doi: 10.1002/mgg3.2319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38013226" target="_blank">38013226</a><a href="/pmc/articles/PMC10767612" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33642092">Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komura S,
|
||
Matsumoto K,
|
||
Hirakawa A,
|
||
Akiyama H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2021 Sep;46(9):815.e1-815.e12.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jhsa.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642092" target="_blank">33642092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32969800">Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danarti R,
|
||
Rahmayani S,
|
||
Wirohadidjojo YW,
|
||
Chen W</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
2020 Aug 1;30(4):404-407.
|
||
doi: 10.1684/ejd.2020.3850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32969800" target="_blank">32969800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29797497">Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rehder H,
|
||
Laccone F,
|
||
Kircher SG,
|
||
Schild RL,
|
||
Rapp C,
|
||
Bald R,
|
||
Schulze B,
|
||
Behunova J,
|
||
Neesen J,
|
||
Schoner K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Jul;176(7):1559-1568.
|
||
Epub 2018 May 23
|
||
doi: 10.1002/ajmg.a.38828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29797497" target="_blank">29797497</a><a href="/pmc/articles/PMC6585644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12612818">Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller SF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2003 Mar;33(3):186-9.
|
||
Epub 2002 Dec 19
|
||
doi: 10.1007/s00247-002-0846-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12612818" target="_blank">12612818</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shortening%20of%20all%20distal%20phalanges%20of%20the%20fingers%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 (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38666724">Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holmes LB,
|
||
Hunt AT</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Sep;194(9):e63620.
|
||
Epub 2024 Apr 26
|
||
doi: 10.1002/ajmg.a.63620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38666724" target="_blank">38666724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38126162">Facial dysmorphology in children exposed in pregnancy to anticonvulsant medications correlates with deficits in IQ.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holmes LB,
|
||
Hunt AT,
|
||
Will LA,
|
||
Dhillon R,
|
||
Deutsch C,
|
||
Adams J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Apr;194(4):e63511.
|
||
Epub 2023 Dec 21
|
||
doi: 10.1002/ajmg.a.63511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38126162" target="_blank">38126162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12210473">Effects on toes from prenatal exposure to anticonvulsants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bokhari A,
|
||
Connolly S,
|
||
Coull BA,
|
||
Harvey EA,
|
||
Holmes LB</span><br />
|
||
<span class="medgenPMjournal">Teratology</span>
|
||
2002 Sep;66(3):122-6.
|
||
doi: 10.1002/tera.10085.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12210473" target="_blank">12210473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6572713">Hydrocephalus and abnormal digits after failed first-trimester prostaglandin abortion attempt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collins FS,
|
||
Mahoney MJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1983 Apr;102(4):620-1.
|
||
doi: 10.1016/s0022-3476(83)80204-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6572713" target="_blank">6572713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/988645">Warfarin-associated embryopathy in a 17-week-old abortus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barr M Jr,
|
||
Burdi AR</span><br />
|
||
<span class="medgenPMjournal">Teratology</span>
|
||
1976 Oct;14(2):129-34.
|
||
doi: 10.1002/tera.1420140203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/988645" target="_blank">988645</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shortening%20of%20all%20distal%20phalanges%20of%20the%20fingers%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38013226">A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu Y,
|
||
Zhou Y,
|
||
Zhang Q,
|
||
Dong J,
|
||
Zheng J,
|
||
Li M,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2024 Jan;12(1):e2319.
|
||
Epub 2023 Nov 27
|
||
doi: 10.1002/mgg3.2319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38013226" target="_blank">38013226</a><a href="/pmc/articles/PMC10767612" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33642092">Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komura S,
|
||
Matsumoto K,
|
||
Hirakawa A,
|
||
Akiyama H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2021 Sep;46(9):815.e1-815.e12.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jhsa.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642092" target="_blank">33642092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29797497">Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rehder H,
|
||
Laccone F,
|
||
Kircher SG,
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Schild RL,
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Rapp C,
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Bald R,
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Schulze B,
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Behunova J,
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Neesen J,
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2018 Jul;176(7):1559-1568.
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Epub 2018 May 23
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doi: 10.1002/ajmg.a.38828.
|
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<span class="bold">PMID: </span><a href="/pubmed/29797497" target="_blank">29797497</a><a href="/pmc/articles/PMC6585644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22695440">Distraction lengthening by callotasis of traumatically shortened bones of the hand.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hosny GA,
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Kandel WA</span><br />
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<span class="medgenPMjournal">J Trauma Acute Care Surg</span>
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2012 Jun;72(6):1676-80.
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<span class="bold">PMID: </span><a href="/pubmed/22695440" target="_blank">22695440</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/1695513">Proximal toe phalanx transplantation for bony stabilization and lengthening of partially aplastic digits.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Buck-Gramcko D,
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Pereira JA</span><br />
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<span class="medgenPMjournal">Ann Chir Main Memb Super</span>
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1990;9(2):107-18.
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doi: 10.1016/s0753-9053(05)80487-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1695513" target="_blank">1695513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Shortening%20of%20all%20distal%20phalanges%20of%20the%20fingers%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38013226">A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu Y,
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Zhou Y,
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Zhang Q,
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Dong J,
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Zheng J,
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Li M,
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<span class="medgenPMjournal">Mol Genet Genomic Med</span>
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2024 Jan;12(1):e2319.
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Epub 2023 Nov 27
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||
doi: 10.1002/mgg3.2319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38013226" target="_blank">38013226</a><a href="/pmc/articles/PMC10767612" 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/37881823">Distraction Osteogenesis for the Brachytelephalangic Thumb - A Case Report.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Yamazumi S,
|
||
Matsuura S,
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||
Miyawaki T</span><br />
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||
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
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||
2023 Oct;28(5):605-608.
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||
Epub 2023 Oct 25
|
||
doi: 10.1142/S2424835523720189.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37881823" target="_blank">37881823</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/33642092">Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Komura S,
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||
Matsumoto K,
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||
Hirakawa A,
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||
Akiyama H</span><br />
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<span class="medgenPMjournal">J Hand Surg Am</span>
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||
2021 Sep;46(9):815.e1-815.e12.
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Epub 2021 Feb 26
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||
doi: 10.1016/j.jhsa.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642092" target="_blank">33642092</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/15070926">Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">de Sanctis L,
|
||
Vai S,
|
||
Andreo MR,
|
||
Romagnolo D,
|
||
Silvestro L,
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||
de Sanctis C</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2004 Apr;89(4):1650-5.
|
||
doi: 10.1210/jc.2003-030850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15070926" target="_blank">15070926</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/12900894">Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.</a></div>
|
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|
||
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|
||
Habbal O,
|
||
Kumar DS</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Aug 15;121A(1):9-14.
|
||
doi: 10.1002/ajmg.a.20256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12900894" target="_blank">12900894</a></div>
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