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<meta name="keywords" content="C1861921, congenital abnormality, cutaneous syndactyly, cutaneous syndactyly of digits, finding, syndactyly, cutaneous, 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 soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=396250
|
||
ConceptID=C1861921
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cutaneous syndactyly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396250</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.">C1861921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cutaneous syndactyly of digits; Syndactyly, cutaneous</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:0012725">HP:0012725</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. [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>
|
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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 unavailable round" title="Clinical test">C</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">Cutaneous syndactyly</span></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/763618" ref="tree=MeSH" title="MedGen record for Abnormal digit morphology">Abnormal digit morphology</a></span><ul><li><span class="TLline"><a href="/medgen/52619" ref="tree=MeSH" title="MedGen record for Syndactyly">Syndactyly</a></span><ul><li><span class="matched_ds">Cutaneous syndactyly</span><ul><li><span class="TLline"><a href="/medgen/866898" ref="tree=MeSH" title="MedGen record for Cutaneous finger syndactyly">Cutaneous finger syndactyly</a></span><ul><li><span class="TLline"><a href="/medgen/869306" ref="tree=MeSH" title="MedGen record for 1-2 finger cutaneous syndactyly">1-2 finger cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/869304" ref="tree=MeSH" title="MedGen record for 1-3 finger cutaneous syndactyly">1-3 finger cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/869303" ref="tree=MeSH" title="MedGen record for 1-4 finger cutaneous syndactyly">1-4 finger cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/350015" ref="tree=MeSH" title="MedGen record for 1-5 finger complete cutaneous syndactyly">1-5 finger complete cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/869302" ref="tree=MeSH" title="MedGen record for 1-5 finger cutaneous syndactyly">1-5 finger cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/96573" ref="tree=MeSH" title="MedGen record for 2-3 finger cutaneous syndactyly">2-3 finger cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/866881" ref="tree=MeSH" title="MedGen record for 2-4 finger cutaneous syndactyly">2-4 finger cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/870711" ref="tree=MeSH" title="MedGen record for 2-5 finger cutaneous syndactyly">2-5 finger cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/868712" ref="tree=MeSH" title="MedGen record for 3-4 finger cutaneous syndactyly">3-4 finger cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/869305" ref="tree=MeSH" title="MedGen record for 4-5 finger cutaneous syndactyly">4-5 finger cutaneous syndactyly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/320423" ref="tree=MeSH" title="MedGen record for Cutaneous syndactyly of toes">Cutaneous syndactyly of toes</a></span><ul><li><span class="TLline"><a href="/medgen/870686" ref="tree=MeSH" title="MedGen record for 1-2 toe complete cutaneous syndactyly">1-2 toe complete cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/98470" ref="tree=MeSH" title="MedGen record for 2-3 toe cutaneous syndactyly">2-3 toe cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/867262" ref="tree=MeSH" title="MedGen record for 2-4 toe cutaneous syndactyly">2-4 toe cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/1863540" ref="tree=MeSH" title="MedGen record for 3-4 toe cutaneous syndactyly">3-4 toe cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/1864069" ref="tree=MeSH" title="MedGen record for 4-5 toe cutaneous syndactyly">4-5 toe cutaneous syndactyly</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_7858"><div><strong>Acrocephalosyndactyly type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7858</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.">C0001193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7858">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66317"><div><strong>KBG syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66317</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.">C0220687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66317">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163197"><div><strong>Filippi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163197</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.">C0795940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia (summary by Hussain et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163197">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331395"><div><strong>Timothy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331395</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.">C1832916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical manifestations of CACNA1C-related disorders include a spectrum of nonsyndromic and syndromic phenotypes, which generally correlate with the impact of the pathogenic variant on calcium current. Phenotypes can include nonsyndromic long QT syndrome (rate-corrected QT [QTc] interval >480 ms); nonsyndromic short QT syndrome (QTc <350 ms), with risk of sudden death; Brugada syndrome (ST segment elevation in right precordial leads [V1-V2]) with short QT interval; classic Timothy syndrome (prolonged QT interval, autism, and congenital heart defect) with or without unilateral or bilateral cutaneous syndactyly variably involving fingers two (index), three (middle), four (ring), and five (little) and bilateral cutaneous syndactyly of toes two and three; and CACNA1C-related neurodevelopmental disorder, in which the features tend to favor one or more of the following: developmental delay / intellectual disability, hypotonia, epilepsy, and/or ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331395">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318752"><div><strong>Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318752</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.">C1832950</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/318752">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333324"><div><strong>TARP syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333324</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.">C1839463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The classic features of TARP syndrome are talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava. Not all patients have all classic features. Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly. Most patients die in late prenatal or early postnatal stages (summary by Kaeppler et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375276"><div><strong>Camptosynpolydactyly, complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375276</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.">C1843758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375276">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343465"><div><strong>Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343465</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.">C1856053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343465">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</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.">C1857663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358131"><div><strong>Orofaciodigital syndrome V</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358131</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.">C1868118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, postaxial polydactyly, and impaired intellectual development (summary by Faily et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358131">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862731"><div><strong>Desbuquois dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862731</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.">C4014294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014). For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (251450).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862731">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1624349"><div><strong>Fraser syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1624349</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.">C4540036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1624349">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621907"><div><strong>Fraser syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621907</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.">C4540040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621907">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1623594"><div><strong>Blepharocheilodontic syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623594</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.">C4540127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).\n\nPeople with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead.\n\nOther features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails.\n\nOccasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623594">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632198"><div><strong>Blepharocheilodontic syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632198</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.">C4551988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632198">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1634304"><div><strong>Alkuraya-Kucinskas syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634304</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.">C4693347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634304">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1675627"><div><strong>Intellectual developmental disorder with cardiac defects and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675627</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.">C5193024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1744234"><div><strong>Chromosome 13q33-q34 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1744234</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.">C5436890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chromosome 13q33-q34 deletion syndrome is associated with developmental delay and/or impaired intellectual development, facial dysmorphism, and an increased risk for epilepsy, cardiac defects and additional anatomic anomalies (summary by Sagi-Dain et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1744234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782096"><div><strong>Coffin-Siris syndrome 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782096</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.">C5444111</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782096">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823986"><div><strong>Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823986</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.">C5774213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical manifestations of CACNA1C-related disorders include a spectrum of nonsyndromic and syndromic phenotypes, which generally correlate with the impact of the pathogenic variant on calcium current. Phenotypes can include nonsyndromic long QT syndrome (rate-corrected QT [QTc] interval >480 ms); nonsyndromic short QT syndrome (QTc <350 ms), with risk of sudden death; Brugada syndrome (ST segment elevation in right precordial leads [V1-V2]) with short QT interval; classic Timothy syndrome (prolonged QT interval, autism, and congenital heart defect) with or without unilateral or bilateral cutaneous syndactyly variably involving fingers two (index), three (middle), four (ring), and five (little) and bilateral cutaneous syndactyly of toes two and three; and CACNA1C-related neurodevelopmental disorder, in which the features tend to favor one or more of the following: developmental delay / intellectual disability, hypotonia, epilepsy, and/or ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823986">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841073"><div><strong>Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841073</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.">C5830437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-71 with behavioral abnormalities (MRD71) is a neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development. Almost all affected individuals show marked behavioral manifestations, including autism spectrum disorder (ASD), ADHD, hypersensitivity, and aggression. Many have dysmorphic features, although there is not a common gestalt (Harris et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841073">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocephalosyndactyly type I</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alkuraya-Kucinskas syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharocheilodontic syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharocheilodontic syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptosynpolydactyly, complex</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1744234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 13q33-q34 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coffin-Siris syndrome 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desbuquois dysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Filippi syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1624349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with cardiac defects and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66317" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">KBG syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823986" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358131" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome V</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">TARP syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331395" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Timothy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon 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/24975584">Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quelin C,
|
||
Spaggiari E,
|
||
Khung-Savatovsky S,
|
||
Dupont C,
|
||
Pasquier L,
|
||
Loeuillet L,
|
||
Jaillard S,
|
||
Lucas J,
|
||
Marcorelles P,
|
||
Journel H,
|
||
Pluquailec-Bilavarn K,
|
||
Bazin A,
|
||
Verloes A,
|
||
Delezoide AL,
|
||
Aboura A,
|
||
Guimiot F</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Oct;164A(10):2504-9.
|
||
Epub 2014 Jun 26
|
||
doi: 10.1002/ajmg.a.36658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24975584" target="_blank">24975584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12205104">Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slavotinek AM,
|
||
Tifft CJ</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2002 Sep;39(9):623-33.
|
||
doi: 10.1136/jmg.39.9.623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12205104" target="_blank">12205104</a><a href="/pmc/articles/PMC1735240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cutaneous%20syndactyly%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 (2)</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/18435847">The Greig cephalopolysyndactyly syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Apr 24;3:10.
|
||
doi: 10.1186/1750-1172-3-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18435847" target="_blank">18435847</a><a href="/pmc/articles/PMC2397380" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12841615">Open treatment of syndactyly of the foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kawabata H,
|
||
Ariga K,
|
||
Shibata T,
|
||
Matsui Y</span><br />
|
||
<span class="medgenPMjournal">Scand J Plast Reconstr Surg Hand Surg</span>
|
||
2003;37(3):150-4.
|
||
doi: 10.1080/02844310310007755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12841615" target="_blank">12841615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10719329">Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linck LM,
|
||
Hayflick SJ,
|
||
Lin DS,
|
||
Battaile KP,
|
||
Ginat S,
|
||
Burlingame T,
|
||
Gibson KM,
|
||
Honda M,
|
||
Honda A,
|
||
Salen G,
|
||
Tint GS,
|
||
Connor WE,
|
||
Steiner RD</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2000 Mar;20(3):238-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10719329" target="_blank">10719329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9118134">Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elia M,
|
||
Musumeci SA,
|
||
Ferri R,
|
||
Greco D,
|
||
Romano C,
|
||
Del Gracco S,
|
||
Stefanini MC</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1996 Nov;12(11):699-704.
|
||
doi: 10.1007/BF00366154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9118134" target="_blank">9118134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8723105">Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfeiffer RA,
|
||
Rinnert S,
|
||
Popp R,
|
||
Röckelein G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1996 May 3;63(1):175-6.
|
||
doi: 10.1002/(SICI)1096-8628(19960503)63:1<175::AID-AJMG30>3.0.CO;2-J.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8723105" target="_blank">8723105</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cutaneous%20syndactyly%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18435847">The Greig cephalopolysyndactyly syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Apr 24;3:10.
|
||
doi: 10.1186/1750-1172-3-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18435847" target="_blank">18435847</a><a href="/pmc/articles/PMC2397380" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18182642">Polydactyly with ectodermal defect, osteopenia, and mental delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zannolli R,
|
||
Buoni S,
|
||
Viviano M,
|
||
Macucci F,
|
||
D'Ambrosio A,
|
||
Livi W,
|
||
Mazzei MA,
|
||
Mazzei F,
|
||
Sacco P,
|
||
Volterrani L,
|
||
Vonella G,
|
||
Orsi A,
|
||
Zappella M,
|
||
Hayek J</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2008 Jun;23(6):683-9.
|
||
Epub 2008 Jan 8
|
||
doi: 10.1177/0883073807309778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18182642" target="_blank">18182642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17163996">KBG syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brancati F,
|
||
Sarkozy A,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Dec 12;1:50.
|
||
doi: 10.1186/1750-1172-1-50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17163996" target="_blank">17163996</a><a href="/pmc/articles/PMC1764006" 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/7554354">Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Preis S,
|
||
Kaewel EV,
|
||
Majewski F</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1995 May;47(5):267-9.
|
||
doi: 10.1111/j.1399-0004.1995.tb04309.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7554354" target="_blank">7554354</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cutaneous%20syndactyly%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25230075">Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathers JD,
|
||
Breen TM,
|
||
Smith JH</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2014 Dec;24(12):1288-94.
|
||
Epub 2014 Sep 17
|
||
doi: 10.1111/pan.12522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25230075" target="_blank">25230075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23678275">Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">An HS,
|
||
Choi EY,
|
||
Kwon BS,
|
||
Kim GB,
|
||
Bae EJ,
|
||
Noh CI,
|
||
Choi JY,
|
||
Park SS</span><br />
|
||
<span class="medgenPMjournal">J Korean Med Sci</span>
|
||
2013 May;28(5):788-91.
|
||
Epub 2013 May 2
|
||
doi: 10.3346/jkms.2013.28.5.788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23678275" target="_blank">23678275</a><a href="/pmc/articles/PMC3653096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23307567">A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barboza-Cerda MC,
|
||
Campos-Acevedo LD,
|
||
Rangel R,
|
||
Martínez-de-Villarreal LE,
|
||
Déctor MA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2013 Feb;161A(2):237-43.
|
||
Epub 2013 Jan 10
|
||
doi: 10.1002/ajmg.a.35743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23307567" target="_blank">23307567</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14577672">Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rott HD,
|
||
Krieg P,
|
||
Rütschle H,
|
||
Kraus C</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2003;14(3):281-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14577672" target="_blank">14577672</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cutaneous%20syndactyly%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31999076">Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Midro AT,
|
||
Stasiewicz-Jarocka B,
|
||
Borys J,
|
||
Hubert E,
|
||
Skotnicka B,
|
||
Hassmann-Poznańska E,
|
||
Sierpińska T,
|
||
Panasiuk B,
|
||
Schanze D,
|
||
Zenker M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Apr;182(4):773-779.
|
||
Epub 2020 Jan 30
|
||
doi: 10.1002/ajmg.a.61495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31999076" target="_blank">31999076</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22443264">Apert syndrome with fused thalami.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ludwig K,
|
||
Salmaso R,
|
||
Manara R,
|
||
Cosmi E,
|
||
Baldi M,
|
||
Rugge M</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2012 Dec;31(6):410-4.
|
||
Epub 2012 Mar 23
|
||
doi: 10.3109/15513815.2012.659407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22443264" target="_blank">22443264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18435847">The Greig cephalopolysyndactyly syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biesecker LG</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2008 Apr 24;3:10.
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/18435847" target="_blank">18435847</a><a href="/pmc/articles/PMC2397380" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12841615">Open treatment of syndactyly of the foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kawabata H,
|
||
Ariga K,
|
||
Shibata T,
|
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Matsui Y</span><br />
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<span class="medgenPMjournal">Scand J Plast Reconstr Surg Hand Surg</span>
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2003;37(3):150-4.
|
||
doi: 10.1080/02844310310007755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12841615" target="_blank">12841615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8723105">Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfeiffer RA,
|
||
Rinnert S,
|
||
Popp R,
|
||
Röckelein G</span><br />
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<span class="medgenPMjournal">Am J Med Genet</span>
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1996 May 3;63(1):175-6.
|
||
doi: 10.1002/(SICI)1096-8628(19960503)63:1<175::AID-AJMG30>3.0.CO;2-J.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8723105" target="_blank">8723105</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cutaneous%20syndactyly%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34067522">Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rotunno R,
|
||
Diociaiuti A,
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||
Dentici ML,
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||
Rinelli M,
|
||
Callea M,
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||
Retrosi C,
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||
Zambruno G,
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||
Bellacchio E,
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||
El Hachem M</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 May 17;12(5)
|
||
doi: 10.3390/genes12050748.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34067522" target="_blank">34067522</a><a href="/pmc/articles/PMC8156511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31999076">Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Midro AT,
|
||
Stasiewicz-Jarocka B,
|
||
Borys J,
|
||
Hubert E,
|
||
Skotnicka B,
|
||
Hassmann-Poznańska E,
|
||
Sierpińska T,
|
||
Panasiuk B,
|
||
Schanze D,
|
||
Zenker M</span><br />
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||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Apr;182(4):773-779.
|
||
Epub 2020 Jan 30
|
||
doi: 10.1002/ajmg.a.61495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31999076" target="_blank">31999076</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17163996">KBG syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brancati F,
|
||
Sarkozy A,
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||
Dallapiccola B</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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||
2006 Dec 12;1:50.
|
||
doi: 10.1186/1750-1172-1-50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17163996" target="_blank">17163996</a><a href="/pmc/articles/PMC1764006" 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/7473664">Filippi syndrome: a new case with skeletal abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Héron D,
|
||
Billette de Villemeur T,
|
||
Munnich A,
|
||
Lyonnet S</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1995 Aug;32(8):659-61.
|
||
doi: 10.1136/jmg.32.8.659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7473664" target="_blank">7473664</a><a href="/pmc/articles/PMC1051647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cutaneous%20syndactyly%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 (26)</a></div></div>
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