{"orpha":140908,"name":"Brachydactyly type B2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140908/","orphanet_url":"https://www.orpha.net/en/disease/detail/140908","names":{"fr":{"name":"Brachydactylie type B2","definition":"Sous-type clinique de brachydactylie de type B caractérisé par une hypoplasie/aplasie des phalanges distales et/ou moyennes des 2<sup>es</sup> à 5<sup>es</sup> doigts et orteils (fréquemment grave s'agissant des 4<sup>es</sup> à 5<sup>es</sup> doigts/orteils, plus légère dans les 2<sup>es</sup> à 3<sup>es</sup> doigts/orteils) en association avec un symphalangisme proximal, et parfois distal, une fusion des os du carpe et du tarse et une syndactylie cutanée partielle. Parmi les autres caractéristiques rapportées figurent un placement proximal des pouces, une surdité neurosensorielle et une hypermétropie."},"de":{"name":"Brachydaktylie Typ B2","definition":"Ein klinischer Subtyp der Brachydaktylie Typ B, gekennzeichnet durch Hypoplasie/Aplasie der distalen und/oder mittleren Phalangen in den Fingern und Zehen II-V (häufig stark ausgeprägt in den Fingern/Zehen IV-V, weniger ausgeprägt in den Fingern/Zehen II-III) in Verbindung mit proximalem und gelegentlich distalem Symphalangismus, Fusion der Karpal-/Fußwurzelknochen und partieller kutaner Syndaktylie. Darüber hinaus wird über die proximale Stellung der Daumen, Schallempfindungsschwerhörigkeit und Weitsichtigkeit berichtet."},"es":{"name":"Braquidactilia tipo B2","definition":"Es un subtipo clínico de braquidactilia tipo B caracterizado por hipoplasia / aplasia de las falanges distales y / o medias de los dedos 2º-5º de manos y pies (con frecuencia, grave en los dedos 4º-5º de manos / pies, y más leve en los dedos 2º-3º de manos / pies ) en asociación con sinfalangismo proximal y, en ocasiones, distal, fusión de los huesos del carpo / tarso y sindactilia cutánea parcial. Otras características descritas incluyen disposición proximal de los pulgares, pérdida auditiva neurosensorial e hipermetropía."},"it":{"name":"Brachidattilia, tipo B2","definition":"La brachidattilia tipo B2 è una malformazione congenita rara degli arti, di origine genetica, caratterizzata da ipoplasia/aplasia delle falangi distali e/o medie delle dita delle mani e del II-V dito del piede (spesso grave nel IV-V dito della mano e del piede e più lieve nel II-III dito), associata a sinfalangismo prossimale (raramente distale), fusione delle ossa carpali/tarsali e sindattilia cutanea parziale. Altri segni clinici sono l'impianto prossimale dei pollici, la sordità neurosensoriale e l'ipermetropia."},"nl":{"name":"Brachydactylie type B2","definition":"Een klinisch subtype van brachydactylie type B, gekarakteriseerd door hypoplasie/aplasie van distale en/of middelste falangen van vingers en tenen II-V (vaak ernstig in vingers/tenen IV-V, milder in vingers/tenen II-III), geassocieerd met proximaal, en soms distaal, symfalangisme, fusie van carpale/tarsale botten en partiële cutane syndactylie. Bijkomende kenmerken die worden gerapporteerd, zijn onder meer proximaal geplaatste duimen, sensorineuraal gehoorverlies en verziendheid."},"pt":{"name":"Braquidatilia tipo B2"},"pl":{"name":"Brachydaktylia typu B2","definition":"*Brachydaktylia typu B2 jest rzadkim, genetycznie uwarunkowanym, wrodzonym zaburzeniem rozwojowym kończyn, które charakteryzuje się niedorozwojem/brakiem dystalnych i/lub środkowych paliczków II-V palców rąk i stóp (często wada jest bardziej nasilona w palcach rąk/stóp IV-V, a mniej w palcach rąk/stóp II-III ), z towarzyszącymi proksymalnym, a czasami dystalnym symfalangizmem, fuzją kości nadgarstka/kości stępu i częściową skórną syndaktylią. Dodatkowo opisywano proksymalne usadowienie kciuka, niedosłuch czuciowo-nerwowy i dalekowzroczność."},"cs":{"name":"Brachydaktylie, typ B2"},"uk":{"name":"Брахідактилія, тип В2","definition":"A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness."},"zh":{"name":"短指/趾B2型","definition":"一种罕见的遗传性先天性肢体畸形疾病，其特征是手指和脚趾II-V的远端和/或中间指骨发育不全/不发育（通常为手指/脚趾IV-V严重，手指/脚趾II-III较轻），伴近端，偶有远端的指关节黏连，腕/跗骨融合和部分皮肤性并指（趾）畸形。其他报告的特征包括拇指近端畸形，感音神经性听力丧失和远视。"},"tr":{"name":"Brakidaktili tip B2"}},"xrefs":[{"source":"OMIM","code":"611377","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":"index","validated":true,"icd11_uri":"891810441"},{"source":"MONDO","code":"0012658","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969652","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":"NOG","name":"noggin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17668388[PMID]","hgnc":"7866","ensembl":"ENSG00000183691","omim":"602991","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001857","label":"Short distal phalanx of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005831","label":"Type B brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Frequent (79-30%)","criteria":null}]}}