{"orpha":572385,"name":"Brachydactyly type B1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-572385/","orphanet_url":"https://www.orpha.net/en/disease/detail/572385","names":{"fr":{"name":"Brachydactylie type B1","definition":"Sous-type rare de brachydactylie type B caractérisé par une hypoplasie ou une aplasie des phalanges distales des 2<sup>e</sup> à 5<sup>e</sup> doigts, avec ou sans dysplasie des ongles, en association avec une fusion des phalanges moyennes et distales, un pouce large ou bifide, et, dans certains cas, une symphalangie distale et proximale ou une syndactylie. L'atteinte des pieds est moins sévère que celle des mains."},"de":{"name":"Brachydaktylie Typ B1","definition":"Ein seltener Subtyp der Brachydaktylie Typ B, gekennzeichnet durch Hypoplasie oder Aplasie der distalen Phalangen der Gliedmaßen 2-5 mit oder ohne Nageldysplasie, in Verbindung mit einer Fusion der mittleren und distalen Phalangen, einem breiten oder bifiden Daumen und gelegentlich distalem und proximalem Symphalangismus oder Syndaktylie. Die Füße sind weniger stark betroffen als die Hände."},"es":{"name":"Braquidactilia tipo B1","definition":"Es un subtipo poco frecuente de braquidactilia tipo B caracterizado por hipoplasia o aplasia de las falanges distales de los dedos 2-5 de las manos, con o sin displasia ungueal, asociada a fusión de las falanges media y distal, pulgar ancho o bífido y, ocasionalmente, sinfalangismo distal y proximal o sindactilia. Los pies se ven menos afectados que las manos."},"it":{"name":"Brachidattilia tipo B1","definition":"Si tratta di un sottotipo raro di brachidattilia di tipo B, caratterizzato da ipoplasia o aplasia delle falangi distali del secondo, terzo, quarto e quinto dito, con o senza displasia ungueale, fusione delle falangi medie e distali, pollice largo o bifido e, occasionalmente, sinfalangismo distale e prossimale o sindattilia. I piedi sono interessati in maniera meno grave rispetto alle mani."},"nl":{"name":"Brachydactylie type B1","definition":"Een zeldzaam subtype van brachydactylie type B, gekarakteriseerd door hypoplasie of aplasie van de distale falangen van vingers/tenen 2-5 met of zonder nageldysplasie, geassocieerd met fusie van de middelste en distale falangen, brede of bifide duim, en soms distaal en proximaal symfalangisme of syndactylie. De voeten worden minder ernstig getroffen dan de handen."},"pt":{"name":"Braquidactilia tipo B1"},"pl":{"name":"Brachydaktylia typ B1"},"cs":{"name":"Brachydaktylie, typ B1"},"uk":{"name":"Брахідактилія, тип В1","definition":"A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands."},"zh":{"name":"B1型短指/趾"},"tr":{"name":"Brakidaktili tip B1"}},"xrefs":[{"source":"OMIM","code":"113000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007220","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566196","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862112","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93383,"name":"Brachydactyly type B","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ROR2","name":"receptor tyrosine kinase like orphan receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24954533[PMID]_18554391[PMID]","hgnc":"10257","ensembl":"ENSG00000169071","omim":"602337","loci":["9q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}