{"orpha":93382,"name":"Brachydactyly type A6","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Acromesomelic dysplasia, Osebold-Remondini type","Osebold-Remondini syndrome"],"definition":"A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93382/","orphanet_url":"https://www.orpha.net/en/disease/detail/93382","names":{"fr":{"name":"Brachydactylie type A6","synonyms":["Syndrome d'Osebold-Remondini"],"definition":"La brachydactylie de type A6 (DBA6) est caractérisée par une brachymésophanlangie avec des membres courts mésoméliques et par des anomalies des os carpiens et du tarse. En général, les patients sont de taille assez petite et ils sont d'une intelligence normale. Le syndrome a été décrit dans une famille comprenant sept sujets atteints sur trois générations. La transmission semble être autosomique dominante."},"de":{"name":"Brachydaktylie Typ A6","synonyms":["Akromesomele Dysplasie Typ Osebold-Remondini","Osebold-Remondini-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch Brachymesophalangie mit mesomelen kurzen Gliedmaßen und Anomalien der Handwurzel- und Fußwurzelknochen gekennzeichnet ist. Im Allgemeinen sind die Betroffenen von leichtem Kleinwuchs und normaler Intelligenz."},"es":{"name":"Braquidactilia tipo A6","synonyms":["Displasia acromesomélica tipo Osebold-Remondini","Síndrome de Osebold-Remondini"],"definition":"La braquidactilia tipo A6 (BDA6) se caracteriza por una braquimesofalangia con acortamiento mesomélico de las extremidades, y por anomalías de los huesos carpianos y del tarso. En general, los individuos afectados son de estatura ligeramente baja y de inteligencia normal. El síndrome se ha descrito en una familia con siete individuos afectados a lo largo de tres generaciones. La transmisión parece ser autosómica dominante."},"it":{"name":"Brachidattilia, tipo A6","synonyms":["Displasia acromesomelica tipo Osebold-Remondini","Sindrome di Osebold-Remondini"]},"nl":{"name":"Brachydactylie type A6","synonyms":["Acromesomele dysplasie, Osebold-Remondini-type","Syndroom van Osebold-Remondini"]},"pt":{"name":"Braquidactilia A6","synonyms":["Displasia acromesomélica, tipo Osebold-Remondini","Síndrome Osebold-Remondini"]},"pl":{"name":"Brachydaktylia typu A6","synonyms":["Zespół Osebolda i Remondiniego"]},"cs":{"name":"Brachydaktylie, typ A6","synonyms":["Oseboldův-Remondiniho syndrom","Osebold-Remondiniho syndrom"]},"uk":{"name":"Брахідактилія, тип А6","synonyms":["Синдром Осебольда-Ремондіні"],"definition":"A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant."},"zh":{"name":"短指（趾）畸形A6型","synonyms":["Osebold-Remondini综合征"],"definition":"短指/趾畸形A6型（BDA6）的特点是短中指/趾畸形伴四肢中部短及腕骨和跗骨异常。一般来说，受影响的个体身材略矮，智力正常。该综合征曾在一个跨三代有七名受累成员的家族中被报道。遗传模式似乎是常染色体显性遗传。"},"tr":{"name":"Brakidaktili tip A6","synonyms":["Osebold-Remondini sendromu"]}},"xrefs":[{"source":"OMIM","code":"112910","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":"92529748"},{"source":"MONDO","code":"0007219","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862130","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"983","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93437,"name":"Acromesomelic dysplasia","classifications":[147,156,199]},{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"4073128[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4073128[PMID]"}],"phenotypes":null}