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<meta name="keywords" content="C0241397, accessory phalanx of the thumb, congenital abnormality, digitalized thumb, digitalized thumbs, finger-like thumb, finger-like thumbs, thumbs digitalized, thumbs, digitalized, tpt, triphalangeal thumb, triphalangeal thumb(s), triphalangeal thumbs, triphalangy of thumb, 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 thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=66029
|
||
ConceptID=C0241397
|
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-->
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<!--imgCountBooks = 0--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Figure 1" src="/projects/medgen/images/thumb/eeb336af09f96ae8.1.thumb.jpg" src-large="/projects/medgen/images/eeb336af09f96ae8.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=eeb336af09f96ae8" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Triphalangeal thumb<span class="h1sub">(TPT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66029</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.">C0241397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>TPT</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Triphalangeal thumb (205308004)</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:0001199">HP:0001199</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/174500" target="_blank">174500</a>; <a href="https://omim.org/entry/620738" target="_blank">620738</a></td></tr>
|
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<div class="portlet_content ln">A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0241397[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=66029">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66029" target="_blank" href="/omim/174500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=66029" ref="ncbi_uid=66029">V</a></span></span><span class="TLline">Triphalangeal thumb</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/436247" ref="tree=MeSH" title="MedGen record for Abnormal finger morphology">Abnormal finger morphology</a></span><ul><li><span class="TLline"><a href="/medgen/107901" ref="tree=MeSH" title="MedGen record for Thumb deformity">Thumb deformity</a></span><ul><li><span class="TLline"><a href="/medgen/867070" ref="tree=MeSH" title="MedGen record for Abnormality of thumb phalanx">Abnormality of thumb phalanx</a></span><ul><li><span class="matched_ds">Triphalangeal thumb</span><ul><li><span class="TLline"><a href="/medgen/867267" ref="tree=MeSH" title="MedGen record for Bilateral triphalangeal thumbs">Bilateral triphalangeal thumbs</a></span></li><li><span class="TLline"><a href="/medgen/870668" ref="tree=MeSH" title="MedGen record for Opposable triphalangeal thumb">Opposable triphalangeal thumb</a></span></li><li><span class="TLline"><a href="/medgen/444008" ref="tree=MeSH" title="MedGen record for Triphalangeal thumb, Nonopposable">Triphalangeal thumb, Nonopposable</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_67392"><div><strong>Oculoauriculovertebral spectrum with radial defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67392</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.">C0220681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67392">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120519"><div><strong>Nager syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120519</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.">C0265245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120519">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120524"><div><strong>Holt-Oram syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120524</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0265264</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120524">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208648"><div><strong>DOORS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208648</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.">C0795934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), with profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures; familial infantile myoclonic epilepsy (FIME), with early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability; progressive myoclonus epilepsy (PME), with action myoclonus, tonic-clonic seizures, ataxia, and progressive neurologic decline; rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC); developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS); autosomal recessive nonsyndromic hearing loss (DFNB); and autosomal dominant nonsyndromic hearing loss (DFNA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208648">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_233003"><div><strong>Oculootoradial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>233003</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.">C1327918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/233003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_301647"><div><strong>Duane-radial ray syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301647</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.">C1623209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301647">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340697"><div><strong>Laurin-Sandrow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340697</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.">C1851100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342975"><div><strong>Acropectoral syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342975</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.">C1853812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with characteristics of a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342975">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343120"><div><strong>Split hand-foot malformation 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343120</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343120">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346753"><div><strong>Craniosynostosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346753</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.">C1858160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346753">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349730"><div><strong>Acrofacial dysostosis Rodriguez type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349730</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.">C1860119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A multiple malformation syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the central nervous system, urogenital tract, heart, and lungs. The mandibulofacial defect causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349730">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348710"><div><strong>Triphalangeal thumbs-brachyectrodactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348710</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348710">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348711"><div><strong>Say-field-Coldwell syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348711</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.">C1860805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348711">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395985"><div><strong>Triphalangeal thumb with double phalanges</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395985</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.">C1860807</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/395985">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348786"><div><strong>Tibia, hypoplasia or aplasia of, with polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348786</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.">C1861098</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348786">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350013"><div><strong>Syndactyly type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350013</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.">C1861355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndactyly type IV (SDTY4) is characterized by complete syndactylism of all the fingers accompanied by polydactyly and cup-shaped hands due to flexion of the fingers (summary by Sato et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350013">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357422"><div><strong>Polydactyly of an index finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357422</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.">C1868113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been described, unilateral and bilateral. There have been no further descriptions in the literature since 1962.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357422">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436451"><div><strong>Diamond-Blackfan anemia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436451</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.">C2675512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436451">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382676"><div><strong>Autosomal dominant deafness - onychodystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382676</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.">C2675730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962). See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382676">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390966"><div><strong>Diamond-Blackfan anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390966</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.">C2676137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390966">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419314"><div><strong>Split hand-foot malformation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419314</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). Genetic Heterogeneity of Split-Hand/Foot Malformation Additional SHFM loci include SHFM2 (313350) on chromosome Xq26; SHFM3 (246560), caused by duplication of chromosome 10q24; SHFM4 (605289), caused by mutation in the TP63 gene (603273) on chromosome 3q28; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation in the WNT10B gene (601906) on chromosome 12q13. Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028). Associations Pending Confirmation For discussion of a possible association between split-hand/foot malformation and variation in the EPS15L1 gene, see 616826.0001.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444008"><div><strong>Triphalangeal thumb, Nonopposable</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444008</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.">C2931238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444008">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419918"><div><strong>Diamond-Blackfan anemia 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419918</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.">C2931850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419918">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462290"><div><strong>Chromosome 2q31.1 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462290</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.">C3150940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462290">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816218"><div><strong>Diamond-Blackfan anemia 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816218</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.">C3809888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816218">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</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.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924305"><div><strong>Polydactyly, postaxial, type A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924305</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.">C4282400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924305">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635275"><div><strong>Townes-Brocks syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635275</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.">C4551481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SALL1-related Townes-Brocks syndrome (SALL1-TBS) is characterized by the triad of imperforate anus or anal stenosis, dysplastic ears (overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment), and thumb malformations (duplication of the thumb [preaxial polydactyly], triphalangeal thumbs, and, rarely, hypoplasia of the thumbs) without hypoplasia of the radius. Impaired kidney function, including end-stage kidney disease (ESKD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoureteral reflux). Foot malformations (flat feet, overlapping toes) and genitourinary malformations are common. Congenital heart disease occurs in 15% of affected individuals. Developmental delay and/or learning difficulties occur in approximately 15% of affected individuals. Rare features include growth deficiency, Duane anomaly, iris coloboma, and Chiari I malformation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635275">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684779"><div><strong>Developmental and epileptic encephalopathy, 80</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684779</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.">C5231418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-80 (DEE80) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in the first year of life. Patients have severe global developmental delay and may have additional variable features, including dysmorphic or coarse facial features, distal skeletal abnormalities, and impaired hearing or vision. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Murakami et al., 2019). For a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684779">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684740"><div><strong>Zimmermann-laband syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684740</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.">C5231447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia (Bauer et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684740">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824096"><div><strong>LADD syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824096</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.">C5774323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824096">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>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Rodriguez type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acropectoral syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant deafness - onychodystrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 2q31.1 duplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (32)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 80</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DOORS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_301647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duane-radial ray syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holt-Oram syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LADD syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Laurin-Sandrow syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nager syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculoauriculovertebral spectrum with radial defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_233003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculootoradial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polydactyly of an index finger</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polydactyly, postaxial, type A1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Say-field-Coldwell syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tibia, hypoplasia or aplasia of, with polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Townes-Brocks syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395985" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triphalangeal thumb with double phalanges</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triphalangeal thumb, Nonopposable</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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triphalangeal thumbs-brachyectrodactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Zimmermann-laband syndrome 3</a></div></span></div></div>
|
||
</div>
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|
||
<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/8169367">Opposable triphalangeal thumb: clinical features and results of treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogino T,
|
||
Ishii S,
|
||
Kato H</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
1994 Jan;19(1):39-47.
|
||
doi: 10.1016/0363-5023(94)90222-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8169367" target="_blank">8169367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22triphalangeal%20thumb%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35230999">Congenital Disorders of the Pediatric Thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen JL,
|
||
Ho CA</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2022 Mar 1;10(3)
|
||
doi: 10.2106/JBJS.RVW.21.00147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35230999" target="_blank">35230999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22357325">Thumb strength in all types of triphalangeal thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zuidam JM,
|
||
Selles RW,
|
||
Hovius SE</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2012 Oct;37(8):751-4.
|
||
Epub 2012 Feb 22
|
||
doi: 10.1177/1753193412438195.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22357325" target="_blank">22357325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1924569">Triphalangism in thumb polydactyly: an anatomic study on surgically resected thumbs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Islam S,
|
||
Shinya F</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1991 Nov;88(5):831-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1924569" target="_blank">1924569</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2279502">Townes-Brocks syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">König R,
|
||
Schick U,
|
||
Fuchs S</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
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1990 Dec;150(2):100-3.
|
||
doi: 10.1007/BF02072048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2279502" target="_blank">2279502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2098049">Triphalangeal thumb and split foot in the same family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Marec B,
|
||
Odent S,
|
||
Treguier C</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
1990;1(3-4):251-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2098049" target="_blank">2098049</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Triphalangeal%20thumb%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26694158">Triphalangeal thumb: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedrazzini A,
|
||
Pogliacomi F,
|
||
Colacicco A,
|
||
Galavotti C,
|
||
De Filippo M,
|
||
Tocco S,
|
||
Ceccarelli F</span><br />
|
||
<span class="medgenPMjournal">Acta Biomed</span>
|
||
2015 Dec 15;86(3):290-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26694158" target="_blank">26694158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22314436">Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho TJ,
|
||
Baek GH,
|
||
Lee HR,
|
||
Moon HJ,
|
||
Yoo WJ,
|
||
Choi IH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2013 May;22(3):219-21.
|
||
doi: 10.1097/BPB.0b013e32835106b2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22314436" target="_blank">22314436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15127761">VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vatansever U,
|
||
Başaran UN,
|
||
Güzel A,
|
||
Acunaş B,
|
||
Balci S</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2004 Jan;13(1):29-30.
|
||
doi: 10.1097/00019605-200401000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15127761" target="_blank">15127761</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3050097">Triphalangeal thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qazi Q,
|
||
Kassner EG</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1988 Aug;25(8):505-20.
|
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doi: 10.1136/jmg.25.8.505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3050097" target="_blank">3050097</a><a href="/pmc/articles/PMC1080027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/520870">Clinodactyly. A review of a series of cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burke F,
|
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Flatt A</span><br />
|
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<span class="medgenPMjournal">Hand</span>
|
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1979 Oct;11(3):269-80.
|
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doi: 10.1016/s0072-968x(79)80049-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/520870" target="_blank">520870</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Triphalangeal%20thumb%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 (30)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33086366">Clinical Characteristics and Surgical Outcomes of Congenital Ulnar-deviated Thumbs: Delta Triphalangeal Thumbs and Irregular Epiphyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han B,
|
||
Shen K,
|
||
Wang Z,
|
||
Xu Y</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2021 Jan;41(1):28-32.
|
||
doi: 10.1097/BPO.0000000000001679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33086366" target="_blank">33086366</a><a href="/pmc/articles/PMC7727465" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26840275">Intraobserver and Interobserver Reliability of the Oberg-Manske-Tonkin (OMT) Classification: Establishing a Registry on Congenital Upper Limb Differences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bae DS,
|
||
Canizares MF,
|
||
Miller PE,
|
||
Roberts S,
|
||
Vuillermin C,
|
||
Wall LB,
|
||
Waters PM,
|
||
Goldfarb CA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2018 Jan;38(1):69-74.
|
||
doi: 10.1097/BPO.0000000000000732.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26840275" target="_blank">26840275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28889454">Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baas M,
|
||
Potuijt JWP,
|
||
Hovius SER,
|
||
Hoogeboom AJM,
|
||
Galjaard RH,
|
||
van Nieuwenhoven CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Nov;173(11):2898-2905.
|
||
Epub 2017 Sep 10
|
||
doi: 10.1002/ajmg.a.38398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28889454" target="_blank">28889454</a><a href="/pmc/articles/PMC5698718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25264557">Results of Treatment of Delta Triphalangeal Thumbs by Excision of the Extra Phalanx.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang AA,
|
||
Hutchinson DT</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2015 Jul-Aug;35(5):474-7.
|
||
doi: 10.1097/BPO.0000000000000319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25264557" target="_blank">25264557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9032651">Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zguricas J,
|
||
Dijkstra PF,
|
||
Gelsema ES,
|
||
Snijders PJ,
|
||
Wüstefeld HP,
|
||
Venema HW,
|
||
Hovius SE,
|
||
Lindhout D</span><br />
|
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<span class="medgenPMjournal">J Med Genet</span>
|
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1997 Jan;34(1):55-62.
|
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doi: 10.1136/jmg.34.1.55.
|
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<span class="bold">PMID: </span><a href="/pubmed/9032651" target="_blank">9032651</a><a href="/pmc/articles/PMC1050848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Triphalangeal%20thumb%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30318985">A multidisciplinary review of triphalangeal thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potuijt JWP,
|
||
Galjaard RH,
|
||
van der Spek PJ,
|
||
van Nieuwenhoven CA,
|
||
Ahituv N,
|
||
Oberg KC,
|
||
Hovius SER</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2019 Jan;44(1):59-68.
|
||
Epub 2018 Oct 14
|
||
doi: 10.1177/1753193418803521.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30318985" target="_blank">30318985</a><a href="/pmc/articles/PMC6297887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27592358">A Novel ZRS Mutation in a Chinese Patient with Preaxial Polydactyly and Triphalangeal Thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu PF,
|
||
Guo S,
|
||
Fan XF,
|
||
Fan LL,
|
||
Jin JY,
|
||
Tang JY,
|
||
Xiang R</span><br />
|
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<span class="medgenPMjournal">Cytogenet Genome Res</span>
|
||
2016;149(3):171-175.
|
||
Epub 2016 Sep 3
|
||
doi: 10.1159/000448820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27592358" target="_blank">27592358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22495965">A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laurell T,
|
||
Vandermeer JE,
|
||
Wenger AM,
|
||
Grigelioniene G,
|
||
Nordenskjöld A,
|
||
Arner M,
|
||
Ekblom AG,
|
||
Bejerano G,
|
||
Ahituv N,
|
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Nordgren A</span><br />
|
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<span class="medgenPMjournal">Hum Mutat</span>
|
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2012 Jul;33(7):1063-6.
|
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Epub 2012 May 11
|
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doi: 10.1002/humu.22097.
|
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<span class="bold">PMID: </span><a href="/pubmed/22495965" target="_blank">22495965</a><a href="/pmc/articles/PMC3370115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11547145">Triphalangeal thumb without associated abnormalities: clinical characteristics and surgical outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horii E,
|
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Nakamura R,
|
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Makino H</span><br />
|
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<span class="medgenPMjournal">Plast Reconstr Surg</span>
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2001 Sep 15;108(4):902-7.
|
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doi: 10.1097/00006534-200109150-00013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11547145" target="_blank">11547145</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1895323">Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai MM,
|
||
Spencer JD,
|
||
Montandon JA,
|
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Berry AC</span><br />
|
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<span class="medgenPMjournal">J Med Genet</span>
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1991 Jul;28(7):497-8.
|
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doi: 10.1136/jmg.28.7.497.
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<span class="bold">PMID: </span><a href="/pubmed/1895323" target="_blank">1895323</a><a href="/pmc/articles/PMC1016966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Triphalangeal%20thumb%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33423580">Polydactyly of the thumb: a modification of the Wassel-Flatt classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JK,
|
||
Al-Dhafer BAA,
|
||
Shin YH,
|
||
Joo HS</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2021 May;46(4):346-351.
|
||
Epub 2021 Jan 10
|
||
doi: 10.1177/1753193420981541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33423580" target="_blank">33423580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33086366">Clinical Characteristics and Surgical Outcomes of Congenital Ulnar-deviated Thumbs: Delta Triphalangeal Thumbs and Irregular Epiphyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han B,
|
||
Shen K,
|
||
Wang Z,
|
||
Xu Y</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2021 Jan;41(1):28-32.
|
||
doi: 10.1097/BPO.0000000000001679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33086366" target="_blank">33086366</a><a href="/pmc/articles/PMC7727465" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30318985">A multidisciplinary review of triphalangeal thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potuijt JWP,
|
||
Galjaard RH,
|
||
van der Spek PJ,
|
||
van Nieuwenhoven CA,
|
||
Ahituv N,
|
||
Oberg KC,
|
||
Hovius SER</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2019 Jan;44(1):59-68.
|
||
Epub 2018 Oct 14
|
||
doi: 10.1177/1753193418803521.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30318985" target="_blank">30318985</a><a href="/pmc/articles/PMC6297887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22495965">A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laurell T,
|
||
Vandermeer JE,
|
||
Wenger AM,
|
||
Grigelioniene G,
|
||
Nordenskjöld A,
|
||
Arner M,
|
||
Ekblom AG,
|
||
Bejerano G,
|
||
Ahituv N,
|
||
Nordgren A</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2012 Jul;33(7):1063-6.
|
||
Epub 2012 May 11
|
||
doi: 10.1002/humu.22097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22495965" target="_blank">22495965</a><a href="/pmc/articles/PMC3370115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15010701">Founder mutations among the Dutch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeegers MP,
|
||
van Poppel F,
|
||
Vlietinck R,
|
||
Spruijt L,
|
||
Ostrer H</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2004 Jul;12(7):591-600.
|
||
doi: 10.1038/sj.ejhg.5201151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15010701" target="_blank">15010701</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Triphalangeal%20thumb%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 (27)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0241397%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0241397%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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