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<meta name="keywords" content="C4021774, anatomical abnormality, camptodactyly of feet, camptodactyly of toe, camptodactyly of toes, 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="Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=867404
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ConceptID=C4021774
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Camptodactyly of toe</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867404</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.">C4021774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Camptodactyly of toes</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:0001836">HP:0001836</a></td></tr>
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||
<div class="portlet_content ln">Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4021774[DISCUI]&test_type=Clinical" ref="ncbi_uid=867404">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Camptodactyly of toe</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866679" ref="tree=MeSH" title="MedGen record for Abnormal tendon morphology">Abnormal tendon morphology</a></span><ul><li><span class="TLline"><a href="/medgen/3228" ref="tree=MeSH" title="MedGen record for Joint contracture">Joint contracture</a></span><ul><li><span class="TLline"><a href="/medgen/83069" ref="tree=MeSH" title="MedGen record for Flexion contracture">Flexion contracture</a></span><ul><li><span class="TLline"><a href="/medgen/326595" ref="tree=MeSH" title="MedGen record for Flexion contracture of digit">Flexion contracture of digit</a></span><ul><li><span class="TLline"><a href="/medgen/195780" ref="tree=MeSH" title="MedGen record for Camptodactyly">Camptodactyly</a></span><ul><li><span class="matched_ds">Camptodactyly of toe</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<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_66314"><div><strong>Gordon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66314</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.">C0220666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA3 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 5 (DA5; 108145) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of ocular abnormalities and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition. For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_67391"><div><strong>Congenital contractural arachnodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67391</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.">C0220668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67391">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82696"><div><strong>Autosomal recessive multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82696</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.">C0265261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82696">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120531"><div><strong>Greig cephalopolysyndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120531</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.">C0265306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322127"><div><strong>Van den Ende-Gupta syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322127</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.">C1833136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Van den Ende-Gupta syndrome (VDEGS) is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by Patel et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335320"><div><strong>Uruguay Faciocardiomusculoskeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335320</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.">C1846010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335344"><div><strong>Terminal osseous dysplasia-pigmentary defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335344</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.">C1846129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335344">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342428"><div><strong>Multicentric osteolysis nodulosis arthropathy spectrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342428</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.">C1850155</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342428">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355844"><div><strong>Camptodactyly-tall stature-scoliosis-hearing loss syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355844</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.">C1864852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355844">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1722257"><div><strong>Arthrogryposis, distal, type 1C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1722257</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.">C5436834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1722257">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1722257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, type 1C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82696" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive multiple pterygium syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly-tall stature-scoliosis-hearing loss syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital contractural arachnodactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gordon syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Greig cephalopolysyndactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multicentric osteolysis nodulosis arthropathy spectrum</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Terminal osseous dysplasia-pigmentary defects syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uruguay Faciocardiomusculoskeletal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Van den Ende-Gupta syndrome</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/36399614">Pediatric Hammertoe Recurrence-Considerations for Revision Surgical Technique and Hypoperfusion Management: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fawcett MA,
|
||
Jarka DE,
|
||
Sinclair MK</span><br />
|
||
<span class="medgenPMjournal">JBJS Case Connect</span>
|
||
2022 Oct 1;12(4)
|
||
Epub 2022 Nov 18
|
||
doi: 10.2106/JBJS.CC.22.00207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36399614" target="_blank">36399614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26008671">Congenital constriction ring of limbs in subjects with history of maternal substance use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malik S,
|
||
Lal K,
|
||
Fatima NG,
|
||
Samo A,
|
||
Haque S</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2015 May;25(5):383-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26008671" target="_blank">26008671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20683984">Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malik S,
|
||
Afzal M,
|
||
Gul S,
|
||
Wahab A,
|
||
Ahmad M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Sep;152A(9):2313-7.
|
||
doi: 10.1002/ajmg.a.33552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20683984" target="_blank">20683984</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19577333">Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trénaunay syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Redondo P,
|
||
Bastarrika G,
|
||
Aguado L,
|
||
Martínez-Cuesta A,
|
||
Sierra A,
|
||
Cabrera J,
|
||
Alonso-Burgos A</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2009 Oct;61(4):621-8.
|
||
Epub 2009 Jul 3
|
||
doi: 10.1016/j.jaad.2009.04.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19577333" target="_blank">19577333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12504768">Valproic acid and lamotrigine treatment during pregnancy. The risk of chromosomal abnormality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozkinay F,
|
||
Cogulu O,
|
||
Gunduz C,
|
||
Yilmaz D,
|
||
Kultursay N</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
2003 Jan 10;534(1-2):197-9.
|
||
doi: 10.1016/s1383-5718(02)00254-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12504768" target="_blank">12504768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Camptodactyly%20of%20toe%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25124224">Ocular pterygium--digital keloid dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abarca H,
|
||
Mellgren AE,
|
||
Trubnykova M,
|
||
Haugen OH,
|
||
Høvding G,
|
||
Tveit KS,
|
||
Houge G,
|
||
Bredrup C,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Nov;164A(11):2901-7.
|
||
Epub 2014 Aug 14
|
||
doi: 10.1002/ajmg.a.36713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25124224" target="_blank">25124224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20683984">Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malik S,
|
||
Afzal M,
|
||
Gul S,
|
||
Wahab A,
|
||
Ahmad M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Sep;152A(9):2313-7.
|
||
doi: 10.1002/ajmg.a.33552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20683984" target="_blank">20683984</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15608409">Camptodactyly, arthropathy, coxa vara, pericarditis (CACP)syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi BR,
|
||
Lim YH,
|
||
Joo KB,
|
||
Paik SS,
|
||
Kim NS,
|
||
Lee JK,
|
||
Yoo DH</span><br />
|
||
<span class="medgenPMjournal">J Korean Med Sci</span>
|
||
2004 Dec;19(6):907-10.
|
||
doi: 10.3346/jkms.2004.19.6.907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15608409" target="_blank">15608409</a><a href="/pmc/articles/PMC2816297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14974122">Prenatal diagnosis of the distal 11q deletion and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CP,
|
||
Chern SR,
|
||
Chang TY,
|
||
Tzen CY,
|
||
Lee CC,
|
||
Chen WL,
|
||
Chen LF,
|
||
Wang W</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2004 Feb;24(2):130-6.
|
||
doi: 10.1002/pd.802.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14974122" target="_blank">14974122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9683871">Familial camptodactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brites MM,
|
||
Moreno A,
|
||
Salgado M,
|
||
Batista AP</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
1998 Jul-Aug;8(5):355-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9683871" target="_blank">9683871</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Camptodactyly%20of%20toe%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 (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20676578">Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardi P,
|
||
Graziadio C,
|
||
Rosa RF,
|
||
Pfeil JN,
|
||
Zen PR,
|
||
Paskulin GA</span><br />
|
||
<span class="medgenPMjournal">Sao Paulo Med J</span>
|
||
2010;128(2):99-101.
|
||
doi: 10.1590/s1516-31802010000200011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20676578" target="_blank">20676578</a><a href="/pmc/articles/PMC10938978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12504768">Valproic acid and lamotrigine treatment during pregnancy. The risk of chromosomal abnormality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozkinay F,
|
||
Cogulu O,
|
||
Gunduz C,
|
||
Yilmaz D,
|
||
Kultursay N</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
2003 Jan 10;534(1-2):197-9.
|
||
doi: 10.1016/s1383-5718(02)00254-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12504768" target="_blank">12504768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Camptodactyly%20of%20toe%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/36399614">Pediatric Hammertoe Recurrence-Considerations for Revision Surgical Technique and Hypoperfusion Management: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fawcett MA,
|
||
Jarka DE,
|
||
Sinclair MK</span><br />
|
||
<span class="medgenPMjournal">JBJS Case Connect</span>
|
||
2022 Oct 1;12(4)
|
||
Epub 2022 Nov 18
|
||
doi: 10.2106/JBJS.CC.22.00207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36399614" target="_blank">36399614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24259422">ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakahara Y,
|
||
Katagiri T,
|
||
Ogata N,
|
||
Haga N</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jan;164A(1):220-4.
|
||
Epub 2013 Nov 20
|
||
doi: 10.1002/ajmg.a.36219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24259422" target="_blank">24259422</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20683984">Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malik S,
|
||
Afzal M,
|
||
Gul S,
|
||
Wahab A,
|
||
Ahmad M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Sep;152A(9):2313-7.
|
||
doi: 10.1002/ajmg.a.33552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20683984" target="_blank">20683984</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19938080">Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wieczorek D,
|
||
Bartsch O,
|
||
Lechno S,
|
||
Kohlhase J,
|
||
Peters DJ,
|
||
Dauwerse H,
|
||
Gillessen-Kaesbach G,
|
||
Hennekam RC,
|
||
Passarge E</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2009 Dec;149A(12):2849-54.
|
||
doi: 10.1002/ajmg.a.33129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19938080" target="_blank">19938080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17033969">A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toydemir RM,
|
||
Brassington AE,
|
||
Bayrak-Toydemir P,
|
||
Krakowiak PA,
|
||
Jorde LB,
|
||
Whitby FG,
|
||
Longo N,
|
||
Viskochil DH,
|
||
Carey JC,
|
||
Bamshad MJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2006 Nov;79(5):935-41.
|
||
Epub 2006 Sep 26
|
||
doi: 10.1086/508433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17033969" target="_blank">17033969</a><a href="/pmc/articles/PMC1698566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Camptodactyly%20of%20toe%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21802062">Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palomares M,
|
||
Delicado A,
|
||
Mansilla E,
|
||
de Torres ML,
|
||
Vallespín E,
|
||
Fernandez L,
|
||
Martinez-Glez V,
|
||
García-Miñaur S,
|
||
Nevado J,
|
||
Simarro FS,
|
||
Ruiz-Perez VL,
|
||
Lynch SA,
|
||
Sharkey FH,
|
||
Thuresson AC,
|
||
Annerén G,
|
||
Belligni EF,
|
||
Martínez-Fernández ML,
|
||
Bermejo E,
|
||
Nowakowska B,
|
||
Kutkowska-Kazmierczak A,
|
||
Bocian E,
|
||
Obersztyn E,
|
||
Martínez-Frías ML,
|
||
Hennekam RC,
|
||
Lapunzina P</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Aug 12;89(2):295-301.
|
||
Epub 2011 Jul 28
|
||
doi: 10.1016/j.ajhg.2011.06.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21802062" target="_blank">21802062</a><a href="/pmc/articles/PMC3155189" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19577333">Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trénaunay syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Redondo P,
|
||
Bastarrika G,
|
||
Aguado L,
|
||
Martínez-Cuesta A,
|
||
Sierra A,
|
||
Cabrera J,
|
||
Alonso-Burgos A</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2009 Oct;61(4):621-8.
|
||
Epub 2009 Jul 3
|
||
doi: 10.1016/j.jaad.2009.04.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19577333" target="_blank">19577333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17033969">A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toydemir RM,
|
||
Brassington AE,
|
||
Bayrak-Toydemir P,
|
||
Krakowiak PA,
|
||
Jorde LB,
|
||
Whitby FG,
|
||
Longo N,
|
||
Viskochil DH,
|
||
Carey JC,
|
||
Bamshad MJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2006 Nov;79(5):935-41.
|
||
Epub 2006 Sep 26
|
||
doi: 10.1086/508433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17033969" target="_blank">17033969</a><a href="/pmc/articles/PMC1698566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8394645">Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raphael SA,
|
||
Blau EB,
|
||
Zhang WH,
|
||
Hsu SH</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1993 Aug;147(8):842-8.
|
||
doi: 10.1001/archpedi.1993.02160320044017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8394645" target="_blank">8394645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/455851">The orthopedic aspects of the fetal alcohol syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spiegel PG,
|
||
Pekman WM,
|
||
Rich BH,
|
||
Versteeg CN,
|
||
Nelson V,
|
||
Dudnikov M</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
1979 Mar-Apr;(139):58-63.
|
||
<span class="bold">PMID: </span><a href="/pubmed/455851" target="_blank">455851</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Camptodactyly%20of%20toe%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 (8)</a></div></div>
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|
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