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<meta name="keywords" content="C0221352, congenital abnormality, congenital webbed fingers, finger syndactyly, partial syndactyly, simple syndactyly of fingers, syndactyly of fingers, syndactyly of fingers without bone fusion, syndactyly of the fingers, webbed fingers, webbed fingers of hand, webbing of fingers, webbing of the fingers, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism"." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=65139
|
||
ConceptID=C0221352
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Finger syndactyly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65139</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.">C0221352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Partial syndactyly; Webbed fingers; Webbing of fingers; Webbing of the fingers</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Syndactyly of the fingers (34048007); Congenital webbed fingers (34048007); Webbed fingers of hand (249769001); Webbed fingers (249769001); Simple syndactyly of fingers (268251006); Syndactyly of fingers without bone fusion (268251006); Syndactyly of fingers (34048007); Webbing of fingers (34048007)</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:0006101">HP:0006101</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_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>
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||
<div class="portlet_content ln">Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". [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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0221352[DISCUI]&test_type=Clinical" ref="ncbi_uid=65139">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=65139" ref="ncbi_uid=65139">V</a></span></span><span class="TLline">Finger 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">Finger syndactyly</span><ul><li><span class="TLline"><a href="/medgen/488792" ref="tree=MeSH" title="MedGen record for Osseous finger syndactyly">Osseous finger syndactyly</a></span><ul><li><span class="TLline"><a href="/medgen/1053402" ref="tree=MeSH" title="MedGen record for 2-3 finger osseus syndactyly">2-3 finger osseus syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/346463" ref="tree=MeSH" title="MedGen record for 3-4 finger osseus syndactyly">3-4 finger osseus syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/869301" ref="tree=MeSH" title="MedGen record for 3-5 finger syndactyly">3-5 finger syndactyly</a></span><ul><li><span class="TLline"><a href="/medgen/1864116" ref="tree=MeSH" title="MedGen record for 3-5 finger cutaneous syndactyly">3-5 finger cutaneous syndactyly</a></span></li></ul></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_61235"><div><strong>Radial aplasia-thrombocytopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61235</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.">C0175703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61235">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_67390"><div><strong>Pfeiffer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67390</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.">C0220658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67390">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82697"><div><strong>Child syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82697</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.">C0265267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NSDHL-related disorders include CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked disorder that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Onychodystrophy and periungual hyperkeratosis are common. Heart, lung, and kidney malformations can also occur. CK syndrome is characterized by mild-to-severe cognitive impairment and behavior problems (aggression, attention-deficit/hyperactivity disorder [ADHD], and irritability). All reported affected males have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82697">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162915"><div><strong>Acrocallosal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162915</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.">C0796147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/162915">Condition Record</a></div></div>
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||
<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>
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||
<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_377836"><div><strong>Brachydactyly-syndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377836</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.">C1853137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377836">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346429"><div><strong>Fuhrmann syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346429</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.">C1856728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Fuhrmann syndrome is an autosomal recessive limb reduction disorder characterized by severe bowing of the femora and aplasia or hypoplasia of the fibulae and ulnae. The radius may be shortened and bowed. Patients also exhibit variable poly- and/or oligodactyly, including absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia and aplasia of toes, clinodactyly, hypoplasia of fingers and fingernails, and postaxial polydactyly. Hypoplasia of the pelvis and congenital dislocation of the hip have also been observed (Fuhrmann et al., 1980; Pfeiffer et al., 1988). Overlapping limb reduction syndromes that are also caused by homozygous mutation in the WNT7A gene include Al-Awadi/Raas-Rothschild syndrome (AARRS; 276820), consisting of absence of ulna and fibula with severe limb deficiency, and Santos syndrome (228930), consisting of fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia. Al-Qattan et al. (2013) stated that AARRS and Fuhrmann syndrome can be differentiated by the following features, which are seen only in AARRS: complete aplasia of 1 or both lower limbs, and absent elbow with radiohumeral synostosis. In addition, the number of digits per hand is 1 to 3 in AARRS, whereas there are 4 to 5 digits in Fuhrmann syndrome. AlQattan et al. (2013) also noted that phocomelia is not a feature of Fuhrmann syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346429">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400262"><div><strong>Acropectorovertebral dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400262</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.">C1863307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400262">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355268"><div><strong>Microphthalmia with brain and digit anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355268</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.">C1864689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/355268">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357183"><div><strong>Scalp-ear-nipple syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357183</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.">C1867020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357183">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_816016"><div><strong>Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816016</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.">C3809686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CTCF-related disorder is characterized by developmental delay / intellectual disability (ranging from mild to severe), with both speech and motor delays being common; feeding difficulties, including dysphagia, and other gastrointestinal issues (gastroesophageal reflux disease and/or irritable bowel syndrome) that can lead to growth deficiency; hypotonia; eye anomalies (strabismus and/or refractive errors); scoliosis; nonspecific dysmorphic features; sleep disturbance; tooth anomalies (crowded teeth and/or abnormal decay); and, less commonly, other congenital anomalies (cleft palate, gastrointestinal malrotation, genitourinary anomalies, and congenital heart defects, including aortic ectasia). Short stature, seizures, hearing loss, recurrent infections, microcephaly, and autistic features have also been described in a minority of affected individuals. At least four reported individuals with CTCF-related disorder developed Wilms tumor, one of whom had bilateral Wilms tumor. However, there is no clear evidence of a significant predisposition for the development of cancer in individuals with CTCF-related disorder at this time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816016">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863456"><div><strong>Neu-Laxova syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863456</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.">C4015019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Serine deficiency disorders include a spectrum of disease ranging from lethal prenatal-onset Neu-Laxova syndrome to serine deficiency with infantile, juvenile, or adult onset. Neu-Laxova syndrome is characterized by severe intrauterine growth deficiency, microcephaly, congenital bilateral cataracts, characteristic dysmorphic features, limb anomalies, and collodion-like ichthyosis. Infants are typically stillborn or die in early infancy. Infantile-onset serine deficiency is characterized by seizures, microcephaly, developmental delay, intellectual disability, and spastic quadriplegia. Individuals that present with juvenile-onset serine deficiency have seizures and many develop spastic quadriplegia. Adult-onset serine deficiency is characterized by progressive axonal polyneuropathy with ataxia and possible cognitive impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1633287"><div><strong>Neu-Laxova syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633287</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.">C4551478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Serine deficiency disorders include a spectrum of disease ranging from lethal prenatal-onset Neu-Laxova syndrome to serine deficiency with infantile, juvenile, or adult onset. Neu-Laxova syndrome is characterized by severe intrauterine growth deficiency, microcephaly, congenital bilateral cataracts, characteristic dysmorphic features, limb anomalies, and collodion-like ichthyosis. Infants are typically stillborn or die in early infancy. Infantile-onset serine deficiency is characterized by seizures, microcephaly, developmental delay, intellectual disability, and spastic quadriplegia. Individuals that present with juvenile-onset serine deficiency have seizures and many develop spastic quadriplegia. Adult-onset serine deficiency is characterized by progressive axonal polyneuropathy with ataxia and possible cognitive impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633287">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809573"><div><strong>Synpolydactyly type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809573</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.">C5574994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986). In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998). Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of Synpolydactyly See also SPD2 (608180), caused by mutation in the fibulin-1 gene (FBLN1; 135820) on chromosome 22q13, and SPD3 (610234), which has been mapped to chromosome 14q11.2-q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809573">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1807460"><div><strong>Kury-Isidor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1807460</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.">C5676925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kury-Isidor syndrome (KURIS) is a neurodevelopmental disorder with a highly variable phenotype. It is characterized mainly by mild global developmental delay apparent from infancy or early childhood with walking delayed by a few years and speech delay, often with language deficits. Intellectual development may be mildly delayed, borderline, or even normal; most patients have behavioral problems, including autism. Additional variable systemic features may include poor overall growth, hypotonia, distal skeletal anomalies, seizures, and nonspecific dysmorphic facial features (summary by Kury et al., 2022).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1807460">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823983"><div><strong>Diaphragmatic hernia 4, with cardiovascular defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823983</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.">C5774210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diaphragmatic hernia-4 with cardiovascular defects (DIH4) is an autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Affected infants have associated pulmonary hypoplasia and respiratory insufficiency resulting in death in infancy. Most also have variable cardiovascular defects, including aortopulmonary window or conotruncal anomalies. Dysmorphic facial features and mild distal limb anomalies are sometimes observed (Beecroft et al., 2021). For a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1823983">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830424"><div><strong>Triphalangeal thumb-polysyndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830424</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.">C5779878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830424">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1854940"><div><strong>Intellectual developmental disorder, x-linked, syndromic 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854940</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.">C5935567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-37 (MRXS37) is a developmental disorder showing phenotypic variability and variable severity. Male mutation carriers tend to be more severely affected than female mutation carriers, some of whom may even be asymptomatic. In general, the disorder is characterized by global developmental delay with delayed walking, speech delay, impaired intellectual development that ranges from borderline low to moderate, and behavioral abnormalities, such as autism and sleeping difficulties. Many patients are able to attend mainstream schools with assistance and work under supervision. Additional more variable features include sensorineural hearing loss, ocular anomalies, feeding difficulties, dysmorphic facial features, inguinal and umbilical hernia, genitourinary defects, congenital heart defects, musculoskeletal anomalies, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism (Shepherdson et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854940">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocallosal syndrome</a></div>
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<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_400262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acropectorovertebral dysplasia</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly-syndactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Child syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (20)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823983" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diaphragmatic hernia 4, with cardiovascular defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fuhrmann syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, x-linked, syndromic 37</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1807460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kury-Isidor syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia with brain and digit anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1633287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neu-Laxova syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neu-Laxova syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pfeiffer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial aplasia-thrombocytopenia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357183" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scalp-ear-nipple syndrome</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_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_1809573" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Synpolydactyly type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triphalangeal thumb-polysyndactyly 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/35426585">The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Askarian S,
|
||
Gholami M,
|
||
Khalili-Tanha G,
|
||
Tehrani NC,
|
||
Joudi M,
|
||
Khazaei M,
|
||
Ferns GA,
|
||
Hassanian SM,
|
||
Avan A,
|
||
Joodi M</span><br />
|
||
<span class="medgenPMjournal">Oral Maxillofac Surg</span>
|
||
2023 Jun;27(2):177-186.
|
||
Epub 2022 Apr 15
|
||
doi: 10.1007/s10006-022-01052-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35426585" target="_blank">35426585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26254946">Symbrachydactyly - Diagnosis, Function, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woodside JC,
|
||
Light TR</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2016 Jan;41(1):135-43; quiz 143.
|
||
Epub 2015 Aug 6
|
||
doi: 10.1016/j.jhsa.2015.06.114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26254946" target="_blank">26254946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10365710">Treatment of congenital differences of the upper extremity: therapist's commentary.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fuller M</span><br />
|
||
<span class="medgenPMjournal">J Hand Ther</span>
|
||
1999 Apr-Jun;12(2):174-7.
|
||
doi: 10.1016/s0894-1130(99)80021-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10365710" target="_blank">10365710</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(finger%20syndactyly)%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 (15)</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/36336572">Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng EE,
|
||
Avila FR,
|
||
Ackerman MJ,
|
||
Moran SL</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2024 Aug;49(8):794.e1-794.e6.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1016/j.jhsa.2022.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36336572" target="_blank">36336572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29994847">Aesthetic Comparison of Two Different Types of Web-Space Reconstruction for Finger Syndactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan F,
|
||
Zhong L,
|
||
Chung KC</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2018 Oct;142(4):963-971.
|
||
doi: 10.1097/PRS.0000000000004798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29994847" target="_blank">29994847</a><a href="/pmc/articles/PMC6156932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28372639">Single-Stage Separation of 3- and 4-Finger Incomplete Simple Syndactyly With Contiguous Gull Wing Flaps: A Technique to Minimize or Avoid Skin Grafting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tian X,
|
||
Xiao J,
|
||
Li T,
|
||
Chen W,
|
||
Lin Q,
|
||
Chim H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2017 Apr;42(4):257-264.
|
||
doi: 10.1016/j.jhsa.2017.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28372639" target="_blank">28372639</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22807161">Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garavelli L,
|
||
Gargano G,
|
||
Simonte G,
|
||
Rosato S,
|
||
Wischmeijer A,
|
||
Melli N,
|
||
Braibanti S,
|
||
Gelmini C,
|
||
Forzano F,
|
||
Pietrobono R,
|
||
Pomponi MG,
|
||
Andreucci E,
|
||
Toutain A,
|
||
Superti-Furga A,
|
||
Neri G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Sep;158A(9):2245-9.
|
||
Epub 2012 Jul 17
|
||
doi: 10.1002/ajmg.a.35474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22807161" target="_blank">22807161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9531408">A comparison of patients with different types of syndactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kramer RC,
|
||
Hildreth DH,
|
||
Brinker MR,
|
||
Bennett JB,
|
||
Thompson L,
|
||
Lumsden RM 2nd,
|
||
Cain TE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
1998 Mar-Apr;18(2):233-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9531408" target="_blank">9531408</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Finger%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36336572">Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng EE,
|
||
Avila FR,
|
||
Ackerman MJ,
|
||
Moran SL</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2024 Aug;49(8):794.e1-794.e6.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1016/j.jhsa.2022.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36336572" target="_blank">36336572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28523332">Apert syndrome - clinical case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siminel MA,
|
||
NeamŢu CO,
|
||
DiŢescu D,
|
||
ForŢofoiu MC,
|
||
Comănescu AC,
|
||
Novac MB,
|
||
NeamŢu SD,
|
||
Gluhovschi A</span><br />
|
||
<span class="medgenPMjournal">Rom J Morphol Embryol</span>
|
||
2017;58(1):277-280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28523332" target="_blank">28523332</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25373857">Gastrointestinal manifestations in diploid/triploid mixoploidy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lalani FK,
|
||
Elsner GL,
|
||
Lebel RR,
|
||
Beg MB</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2015 Jun;60(6):799-801.
|
||
doi: 10.1097/MPG.0000000000000622.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25373857" target="_blank">25373857</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16531737">Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan TY,
|
||
Nazaretian S,
|
||
McGillivray G,
|
||
Simpson I,
|
||
Bankier A</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2006 Apr;15(2):101-5.
|
||
doi: 10.1097/01.mcd.0000198928.86458.81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16531737" target="_blank">16531737</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9531408">A comparison of patients with different types of syndactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kramer RC,
|
||
Hildreth DH,
|
||
Brinker MR,
|
||
Bennett JB,
|
||
Thompson L,
|
||
Lumsden RM 2nd,
|
||
Cain TE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
1998 Mar-Apr;18(2):233-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9531408" target="_blank">9531408</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Finger%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17937434">Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall BD,
|
||
Cadle RG,
|
||
Morrill-Cornelius SM,
|
||
Bay CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2007 Dec 15;143A(24):3047-53.
|
||
doi: 10.1002/ajmg.a.31970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17937434" target="_blank">17937434</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14646659">Two case reports of pollicization of a previously syndactylized index finger for congenitally absent thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Netscher DT,
|
||
Eladoumikdachi F</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2003 Dec;51(6):607-10; discussion 611-6.
|
||
doi: 10.1097/01.SAP.0000067962.03244.D6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14646659" target="_blank">14646659</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9531408">A comparison of patients with different types of syndactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kramer RC,
|
||
Hildreth DH,
|
||
Brinker MR,
|
||
Bennett JB,
|
||
Thompson L,
|
||
Lumsden RM 2nd,
|
||
Cain TE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
1998 Mar-Apr;18(2):233-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9531408" target="_blank">9531408</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Finger%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34972652">Thumb and first webspace reconstruction in nonsyndromic congenital mitten hand with symbrachydactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen XF,
|
||
Yin F,
|
||
Gasteratos K,
|
||
Wang J,
|
||
Chim H,
|
||
Rui YJ</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2022 Jun;75(6):1902-1906.
|
||
Epub 2021 Dec 6
|
||
doi: 10.1016/j.bjps.2021.11.113.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34972652" target="_blank">34972652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29994847">Aesthetic Comparison of Two Different Types of Web-Space Reconstruction for Finger Syndactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan F,
|
||
Zhong L,
|
||
Chung KC</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2018 Oct;142(4):963-971.
|
||
doi: 10.1097/PRS.0000000000004798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29994847" target="_blank">29994847</a><a href="/pmc/articles/PMC6156932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Finger%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 (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0221352%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (35)</a></li>
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<li><a href="/gtr/tests?term=C0221352%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (35)</a></li>
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