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<meta name="keywords" content="C0432028, cleft foot, congenital abnormality, ectrodactyly of feet, foot ectrodactyly, lobster claw foot, lobster-claw foot deformity, split feet, split foot, split foot (disease), split-foot, 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="A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=140919
|
||
ConceptID=C0432028
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Split foot</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140919</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.">C0432028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Split foot (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cleft foot (205358006); Split foot (205358006); Lobster claw foot (205358006)</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:0001839">HP:0001839</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017450" target="_blank">MONDO:0017450</a></td></tr>
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</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_content ln">A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. [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>
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<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><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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265554[DISCUI]&test_type=Clinical" ref="ncbi_uid=78566">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=78566" ref="ncbi_uid=78566">V</a></span></span><span class="TLline"><a href="/medgen/78566" ref="tree=GTR&ncbi_uid=78566&link_uid=78566" title="View MedGen record for 'Ectrodactyly'">Ectrodactyly</a></span><ul><li class="matched_ds"><span class="TLline">Split foot</span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/397570" ref="tree=GTR&ncbi_uid=397570&link_uid=397570" title="View MedGen record for 'Split hand'">Split hand</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=C1847622[DISCUI]&test_type=Clinical" ref="ncbi_uid=338277">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338277" target="_blank" href="/omim/606708">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=338277" ref="ncbi_uid=338277">V</a></span></span><span class="TLline"><a href="/medgen/338277" ref="tree=GTR&ncbi_uid=338277&link_uid=338277" title="View MedGen record for 'Split hand-foot malformation 5'">Split hand-foot malformation 5</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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/868065" ref="tree=MeSH" title="MedGen record for Abnormality of limb bone">Abnormality of limb bone</a></span><ul><li><span class="TLline"><a href="/medgen/904271" ref="tree=MeSH" title="MedGen record for Abnormal limb bone morphology">Abnormal limb bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/78566" ref="tree=MeSH" title="MedGen record for Ectrodactyly">Ectrodactyly</a></span><ul><li><span class="matched_ds">Split foot</span></li></ul></li></ul></li></ul></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=20946&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Split foot</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_42055"><div><strong>Focal dermal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42055</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:">C0016395</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PORCN-related developmental disorders include a spectrum of highly variable multisystem disorders caused by developmental abnormalities in mesodermal and ectodermal structures primarily involving the skin, limbs, eyes, and face. The manifestations vary among affected individuals, and many have only a subset of the characteristic features. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucous papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo- and syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, pointed chin, and small, underfolded pinnae. Dental anomalies can include hypodontia, enamel defects, and/or abnormally shaped teeth. Occasional findings include abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment and/or behavioral issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42055">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_330469"><div><strong>MMEP syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330469</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.">C1832440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330469">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326848"><div><strong>Split hand-foot malformation 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326848</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.">C1839258</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 (183600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326848">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343663"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343663</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.">C1851841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343663">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343120"><div><strong>Split hand-foot malformation 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343120</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.">C1854442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343120">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_384042"><div><strong>Ectrodactyly-polydactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384042</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.">C1857040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347431"><div><strong>Split hand-foot malformation 1 with sensorineural hearing loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347431</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.">C1857344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) is an autosomal recessive disorder characterized by severe limb defects and moderate to severe hearing loss. There is nearly complete palmar dorsalization, with circumferential fingernails (Shamseldin et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformation, see SHFM1 (183600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347431">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347666"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347666</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.">C1858562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347666">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395425"><div><strong>Acro-renal-mandibular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395425</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.">C1860166</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395425">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348710"><div><strong>Triphalangeal thumbs-brachyectrodactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348710</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.">C1860804</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 triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348710">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349989"><div><strong>Tetramelic monodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349989</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.">C1861233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349989">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349310"><div><strong>Split-hand/foot malformation with long bone deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349310</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.">C1861553</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/349310">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396290"><div><strong>Fibular aplasia-ectrodactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396290</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.">C1862100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia is a rare disorder that appears to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression (Evans et al., 2002). A form of fibular hypoplasia/aplasia associated with oligosyndactyly and tibial campomelia has been reported (FATCO syndrome; 246570). Split-hand/foot malformation associated with tibial hypoplasia/aplasia has also been described (see SHFLD1, 119100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396290">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400232"><div><strong>ADULT syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400232</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.">C1863204</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355051"><div><strong>Limb-mammary syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355051</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.">C1863753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355051">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355340"><div><strong>Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355340</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.">C1864965</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/355340">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401072"><div><strong>Karsch-Neugebauer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401072</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.">C1866740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401072">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357125"><div><strong>Split-hand and split-foot with hypodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357125</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.">C1866742</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/357125">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440845"><div><strong>Split hand-foot malformation 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440845</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.">C2749665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440845">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419314"><div><strong>Split hand-foot malformation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419314</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.">C2931019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). Genetic Heterogeneity of Split-Hand/Foot Malformation Additional SHFM loci include SHFM2 (313350) on chromosome Xq26; SHFM3 (246560), caused by duplication of chromosome 10q24; SHFM4 (605289), caused by mutation in the TP63 gene (603273) on chromosome 3q28; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation in the WNT10B gene (601906) on chromosome 12q13. Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028). Associations Pending Confirmation For discussion of a possible association between split-hand/foot malformation and variation in the EPS15L1 gene, see 616826.0001.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798910"><div><strong>Split-foot malformation-mesoaxial polydactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798910</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.">C5567487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Split-foot malformation with mesoaxial polydactyly (SFMMP) is characterized by a split-foot defect and nail abnormalities of the hands, as well as hearing loss in some patients (Spielmann et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798910">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808766"><div><strong>Patterson-Stevenson-Fontaine syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808766</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.">C5574964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808766">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804308"><div><strong>ACCES syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804308</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.">C5677019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aplasia cutis congenita and ectrodactyly skeletal syndrome (ACCES) is characterized by highly variable expressivity, even within the same family. Most patients exhibit scalp defects, whereas ectrodactyly is less common; however, more variable and less obvious digital and skeletal anomalies are often present. Early growth deficiency and neurodevelopmental delay are also commonly seen (Schnur et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804308">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ACCES syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acro-renal-mandibular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ADULT syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly-polydactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibular aplasia-ectrodactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal dermal hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Karsch-Neugebauer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb-mammary syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MMEP syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patterson-Stevenson-Fontaine syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 1 with sensorineural hearing loss</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split-foot malformation-mesoaxial polydactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split-hand and split-foot with hypodontia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split-hand/foot malformation with long bone deficiency 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetramelic monodactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triphalangeal thumbs-brachyectrodactyly syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11462173">p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Bokhoven H,
|
||
Hamel BC,
|
||
Bamshad M,
|
||
Sangiorgi E,
|
||
Gurrieri F,
|
||
Duijf PH,
|
||
Vanmolkot KR,
|
||
van Beusekom E,
|
||
van Beersum SE,
|
||
Celli J,
|
||
Merkx GF,
|
||
Tenconi R,
|
||
Fryns JP,
|
||
Verloes A,
|
||
Newbury-Ecob RA,
|
||
Raas-Rotschild A,
|
||
Majewski F,
|
||
Beemer FA,
|
||
Janecke A,
|
||
Chitayat D,
|
||
Crisponi G,
|
||
Kayserili H,
|
||
Yates JR,
|
||
Neri G,
|
||
Brunner HG</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2001 Sep;69(3):481-92.
|
||
Epub 2001 Jul 17
|
||
doi: 10.1086/323123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11462173" target="_blank">11462173</a><a href="/pmc/articles/PMC1235479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22split%20foot%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35172852">Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pietrzak A,
|
||
Wawrzycki B,
|
||
Schmuth M,
|
||
Wertheim-Tysarowska K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Feb 16;17(1):53.
|
||
doi: 10.1186/s13023-022-02207-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35172852" target="_blank">35172852</a><a href="/pmc/articles/PMC8848968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26171959">Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bedard T,
|
||
Lowry RB,
|
||
Sibbald B,
|
||
Kiefer GN,
|
||
Metcalfe A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2015 Nov;167A(11):2599-609.
|
||
Epub 2015 Jul 14
|
||
doi: 10.1002/ajmg.a.37240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26171959" target="_blank">26171959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24115638">Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurrieri F,
|
||
Everman DB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2013 Nov;161A(11):2860-72.
|
||
Epub 2013 Sep 24
|
||
doi: 10.1002/ajmg.a.36239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24115638" target="_blank">24115638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20920258">Acro-cardio-facial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Sep 29;5:25.
|
||
doi: 10.1186/1750-1172-5-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20920258" target="_blank">20920258</a><a href="/pmc/articles/PMC2955584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2098049">Triphalangeal thumb and split foot in the same family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Marec B,
|
||
Odent S,
|
||
Treguier C</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
1990;1(3-4):251-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2098049" target="_blank">2098049</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Split%20foot%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 (17)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30301730">Lady with 'lobster claw' feet.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aman A,
|
||
Darby L,
|
||
Rahmani MJH</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2018 Oct 8;2018
|
||
doi: 10.1136/bcr-2018-226368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30301730" target="_blank">30301730</a><a href="/pmc/articles/PMC6194423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29023680">First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umair M,
|
||
Ullah A,
|
||
Abbas S,
|
||
Ahmad F,
|
||
Basit S,
|
||
Ahmad W</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Mar;93(3):699-702.
|
||
Epub 2018 Jan 25
|
||
doi: 10.1111/cge.13152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29023680" target="_blank">29023680</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26042905">Congenital limb deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilcox WR,
|
||
Coulter CP,
|
||
Schmitz ML</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2015 Jun;42(2):281-300, viii.
|
||
doi: 10.1016/j.clp.2015.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26042905" target="_blank">26042905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20920258">Acro-cardio-facial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Sep 29;5:25.
|
||
doi: 10.1186/1750-1172-5-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20920258" target="_blank">20920258</a><a href="/pmc/articles/PMC2955584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1784012">Congenital cleft foot deformity (split foot or lobster claw).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mason WH</span><br />
|
||
<span class="medgenPMjournal">J Am Podiatr Med Assoc</span>
|
||
1991 Nov;81(11):575-9.
|
||
doi: 10.7547/87507315-81-11-575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1784012" target="_blank">1784012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Split%20foot%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 (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37463013">Phosphorylation of Schizosaccharomyces pombe Dss1 mediates direct binding to the ubiquitin-ligase Dma1 in vitro.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobsen NL,
|
||
Bloch M,
|
||
Millard PS,
|
||
Ruidiaz SF,
|
||
Elsborg JD,
|
||
Boomsma W,
|
||
Hendus-Altenburger R,
|
||
Hartmann-Petersen R,
|
||
Kragelund BB</span><br />
|
||
<span class="medgenPMjournal">Protein Sci</span>
|
||
2023 Sep;32(9):e4733.
|
||
doi: 10.1002/pro.4733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37463013" target="_blank">37463013</a><a href="/pmc/articles/PMC10443397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7726229">Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurrieri F,
|
||
Cammarata M,
|
||
Avarello RM,
|
||
Genuardi M,
|
||
Pomponi MG,
|
||
Neri G,
|
||
Giuffrè L</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Jan 30;55(3):315-8.
|
||
doi: 10.1002/ajmg.1320550314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7726229" target="_blank">7726229</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Split%20foot%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/29620206">Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
|
||
Lin X,
|
||
Zhu Y,
|
||
Luo J,
|
||
Lin G</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2018 Jun;17(6):7553-7558.
|
||
Epub 2018 Mar 29
|
||
doi: 10.3892/mmr.2018.8838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29620206" target="_blank">29620206</a><a href="/pmc/articles/PMC5983954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27825810">DSS1 promoter hypomethylation and overexpression predict poor prognosis in melanoma and squamous cell carcinoma patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venza M,
|
||
Visalli M,
|
||
Catalano T,
|
||
Beninati C,
|
||
Teti D,
|
||
Venza I</span><br />
|
||
<span class="medgenPMjournal">Hum Pathol</span>
|
||
2017 Feb;60:137-146.
|
||
Epub 2016 Nov 4
|
||
doi: 10.1016/j.humpath.2016.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27825810" target="_blank">27825810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20920258">Acro-cardio-facial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Sep 29;5:25.
|
||
doi: 10.1186/1750-1172-5-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20920258" target="_blank">20920258</a><a href="/pmc/articles/PMC2955584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11787035">Split-hand/split-foot malformation with paternal mutation in the p63 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witters I,
|
||
Van Bokhoven H,
|
||
Goossens A,
|
||
Van Assche FA,
|
||
Fryns JP</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2001 Dec;21(13):1119-22.
|
||
doi: 10.1002/pd.181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11787035" target="_blank">11787035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8074153">Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genuardi M,
|
||
Silvestri E,
|
||
Tozzi C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1994 Jul 1;51(3):247-50.
|
||
doi: 10.1002/ajmg.1320510315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8074153" target="_blank">8074153</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Split%20foot%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38411330">Carcinogenesis caused by transcription-coupled DNA damage through GANP and other components of the TREX-2 complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakai Y,
|
||
Kuwahara K</span><br />
|
||
<span class="medgenPMjournal">Pathol Int</span>
|
||
2024 Mar;74(3):103-118.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1111/pin.13415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38411330" target="_blank">38411330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29620206">Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
|
||
Lin X,
|
||
Zhu Y,
|
||
Luo J,
|
||
Lin G</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2018 Jun;17(6):7553-7558.
|
||
Epub 2018 Mar 29
|
||
doi: 10.3892/mmr.2018.8838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29620206" target="_blank">29620206</a><a href="/pmc/articles/PMC5983954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29578129">DNA Methylation and Uveal Melanoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang ZK,
|
||
Yang JY,
|
||
Xu ZZ,
|
||
Yu WH</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2018 Apr 5;131(7):845-851.
|
||
doi: 10.4103/0366-6999.228229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29578129" target="_blank">29578129</a><a href="/pmc/articles/PMC5887744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24515614">DSSylation, a novel protein modification targets proteins induced by oxidative stress, and facilitates their degradation in cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Chang FM,
|
||
Huang J,
|
||
Junco JJ,
|
||
Maffi SK,
|
||
Pridgen HI,
|
||
Catano G,
|
||
Dang H,
|
||
Ding X,
|
||
Yang F,
|
||
Kim DJ,
|
||
Slaga TJ,
|
||
He R,
|
||
Wei SJ</span><br />
|
||
<span class="medgenPMjournal">Protein Cell</span>
|
||
2014 Feb;5(2):124-40.
|
||
Epub 2014 Feb 11
|
||
doi: 10.1007/s13238-013-0018-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24515614" target="_blank">24515614</a><a href="/pmc/articles/PMC3956975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11787035">Split-hand/split-foot malformation with paternal mutation in the p63 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witters I,
|
||
Van Bokhoven H,
|
||
Goossens A,
|
||
Van Assche FA,
|
||
Fryns JP</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2001 Dec;21(13):1119-22.
|
||
doi: 10.1002/pd.181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11787035" target="_blank">11787035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Split%20foot%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 (24)</a></div></div>
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