{"orpha":69028,"name":"Dysostosis with brachydactyly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare disorders characterized by brachydactyly due to abnormal development of the phalanges and/or metacarpals. Brachydactyly is part of a group of limb malformations characterized by dysostosis, involving abnormal development of individual bones, either in isolation or in combination with other skeletal abnormalities. These disorders primarily affect the skeleton, although extraskeletal manifestations may also occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69028/","orphanet_url":"https://www.orpha.net/en/disease/detail/69028","names":{"fr":{"name":"Dysostose avec brachydactylie","definition":"Groupe de maladies rares caractérisées par une brachydactylie due à un développement anormal des phalanges et/ou des métacarpiens. La brachydactylie fait partie d'un ensemble de malformations des membres caractérisées par une dysostose, qui se traduit par un développement anormal de certains os, soit de manière isolée, soit en association avec d'autres anomalies squelettiques. Ces maladies touchent principalement le squelette, bien que des manifestations extrasquelettiques puissent s'observer."},"de":{"name":"Dysostose mit Brachydaktylie","definition":"Der Terminus Brachydaktylie ('kurze Finger') bezieht sich allgemein auf unproportioniert kurze Finger und Zehen in der Gruppe der Gliedmaßenfehlbildungen mit knöcherner Dysostose."},"es":{"name":"Disostosis con braquidactilia","definition":"La braquidactilia ('dedos cortos') es un término genérico que hace referencia a dedos desproporcionadamente cortos en manos y pies. La braquidactilia forma parte de un grupo de malformaciones de las extremidades caracterizado por una disostosis."},"it":{"name":"Sindrome con brachidattilia"},"nl":{"name":"Dysostose met brachydactylie","definition":"Brachydactylie (korte digiti) is een algemene term die verwijst naar disproportioneel korte vingers en tenen, en behoort tot de groep van ledemaatmalformaties die gekenmerkt worden door dysostose van bot."},"pt":{"name":"Disostose com braquidactilia","definition":"A braquidactilia (\"dedos curtos\") é um termo geral que se refere a dedos desproporcionalmente curtos nas mãos e pés, e é parte de um grupo de malformações de membros caracterizado por disostose óssea."},"pl":{"name":"Zespoły z brachydaktylią"},"cs":{"name":"Syndrom s brachydaktylií"},"uk":{"name":"Дизостоз з брахідактилією","definition":"Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis."},"zh":{"name":"骨发育不良伴短指畸形"},"tr":{"name":"Brakidaktili ile seyreden disostoz"}},"xrefs":[{"source":"MONDO","code":"19066","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681270","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93456,"name":"OBSOLETE: Brachydactyly group","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","type":"Category"},{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}