{"orpha":2252,"name":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Schmitt-Gillenwater-Kelly syndrome"],"definition":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2252/","orphanet_url":"https://www.orpha.net/en/disease/detail/2252","names":{"fr":{"name":"Syndrome d'hypoplasie du radius-pouces triphalangés-hypospadias-progénie","synonyms":["Syndrome de Schmitt-Gillenwater-Kelly"],"definition":"Le syndrome d'hypoplasie du radius-pouces triphalangés-hypospadias-progénie est caractérisé par des pouces triphalangés non opposables et symétriques, et par une hypoplasie radiale. Il a été décrit chez huit patients (trois hommes et cinq femmes) appartenant à trois générations d'une même famille. Les hommes atteints présentaient également un hypospadias. Ce syndrome se transmet sur le mode autosomique dominant."},"de":{"name":"Radiushypoplasie-triphalangeale Daumen-Hypospadie-Progenie-maxilläres Diastema-Syndrom","synonyms":["Schmitt-Gillenwater-Kelly-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch beiderseits nicht-opponierbare triphalangeale Daumen und Radiushypoplasie."},"es":{"name":"Síndrome de hipoplasia radial-pulgares trifalángicos-hipospadias-diastema maxilar","definition":"Es un síndrome caracterizado por pulgares trifalángicos simétricos no oponibles e hipoplasia radial. Se ha descrito en ocho pacientes (cinco mujeres y tres hombres) de varias generaciones de una misma familia. Los varones afectos también presentaban hipospadias. El síndrome se hereda como un rasgo autosómico dominante."},"it":{"name":"Ipoplasia radiale - pollici trifalangei - ipospadia - diastema mascellare","synonyms":["Sindrome di Schmitt-Gillenwater-Kelly"]},"nl":{"name":"Hypoplasie van radius - trifalangeale duimen - hypospadie - maxillair diasteem-syndroom","synonyms":["Syndroom van Schmitt-Gillenwater-Kelly"],"definition":"Hypoplasie van radius - trifalangeale duimen - hypospadie - maxillair diasteem-syndroom wordt gekenmerkt door symmetrische, niet-opponeerbare trifalangeale duimen en hypoplasie van radius. Het werd beschreven bij acht patiënten (vijf vrouwen en drie mannen) uit meerdere generaties van één familie. De getroffen mannen vertoonden ook hypospadie. Het syndroom wordt overgeërfd als een autosomaal dominant kenmerk."},"pt":{"name":"Síndrome de hipoplasia radial-polegar trifalângico-hipospadias-diastema maxilar","synonyms":["Síndrome Schmitt-Gillenwater-Kelly"]},"pl":{"name":"Hipoplazja kości łokciowej - trójpaliczkowe kciuki - spodziectwo - diastema szczęki","synonyms":["Zespół Schmitta, Gillenwatera i Kelly'ego"]},"cs":{"name":"Syndrom zahnující radiální hypoplázii, trifalangeální palce, hypospadii a maxilární diastema","synonyms":["Schmittův-Gillenwaterův-Kellyho syndrome","Schmitt-Gillenwater-Kellyho syndrome"]},"uk":{"name":"Синдром гіпоплазії променевої кістки - трифалангових великих пальців - гіпоспадії - щелепної діастеми","synonyms":["Синдром Шмітта-Гілленвотера-Келлі"],"definition":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait."},"zh":{"name":"桡骨发育不全-拇指三指节畸形-尿道下裂-上颌骨纵裂综合征","synonyms":["Schmitt-Gillenwater-Kell综合征"]},"tr":{"name":"Radyal hipoplazi-trifalanjiyal başparmak-hipospadias-maksiller diastema sendromu","synonyms":["Schmitt-Gillenwater-Kelly sendromu"]}},"xrefs":[{"source":"OMIM","code":"179250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008357","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536262","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867397","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"258","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"7137222[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7137222[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005725","label":"Nonopposable triphalangeal thumb","frequency":"Very frequent (99-80%)","criteria":null}]}}