{"orpha":93394,"name":"Brachydactyly type A4","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Brachydactyly, Temtamy type","Brachymesophalangy II and V"],"definition":"A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93394/","orphanet_url":"https://www.orpha.net/en/disease/detail/93394","names":{"fr":{"name":"Brachydactylie type A4","synonyms":["Brachydactylie type Temtamy","Brachymésophalangie II et V"],"definition":"Malformation congénitale rare des membres caractérisée par des phalanges moyennes courtes des deuxième et cinquième doigts et l'absence de phalanges moyennes du deuxième au cinquième orteil. Parfois, le quatrième doigt peut être affecté avec une phalange moyenne anormale qui provoque une déviation radiale de la phalange distale. D'autres malformations des mains et des pieds, telles que la syndactylie, la polydactylie, une asymétrie des os et le symphalangisme, peuvent être associées."},"de":{"name":"Brachydaktylie Typ A4","synonyms":["Brachydaktylie Typ Temtamy","Brachymesophalangie II und V"],"definition":"Eine seltene angeborene Gliedmaßenfehlbildung, die durch kurze Mittelphalangen des 2. und 5. Fingers und das Fehlen der Mittelphalangen der Zehen 2 bis 5 gekennzeichnet ist. Gelegentlich kann auch der 4. Finger betroffen sein und zeigt sich mit einer abnormal geformten Mittelphalanx, die eine radiale Abweichung der distalen Phalanx verursacht. Andere Hand-/Fußfehlbildungen, wie Syndaktylie, Polydaktylie, Repositionsdefekte und Symphalangismus, können assoziiert sein."},"es":{"name":"Braquidactilia tipo A4","synonyms":["Braquidactilia-clinodactilia"],"definition":"Es una rara malformación congénita de las extremidades caracterizada por falanges medias cortas de los dedos segundo y quinto de la mano y ausencia de las falanges medias de los dedos segundo a quinto de los pies. Ocasionalmente, el cuarto dedo puede verse afectado y se manifiesta con una falange media de forma anómala que causa una desviación radial de falange distal. También puede asociar otras malformaciones en manos/ pies, como sindactilia, polidactilia, defectos de reducción y sinfalangismo."},"it":{"name":"Brachidattilia tipo A4","synonyms":["Brachidattilia, tipo Temtamy","Brachimesofalangia II eV"],"definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata da accorciamento delle falangi medie del secondo e del quinto dito della mano, e dall'aplasia delle falangi medie del secondo, terzo, quarto e quinto dito del piede. Occasionalmente, può essere interessato anche il quarto dito, che presenta una forma anomala della falange media, con conseguente deviazione radiale della falange distale. Può associarsi ad altre malformazioni delle mani e dei piedi, come la sindattilia, la polidattilia, i difetti in riduzione e il sinfalangismo."},"nl":{"name":"Brachydactylie type A4","synonyms":["Brachymesofalangie II en V","Brachydactylie, Temtamy-type"],"definition":"Een zeldzame, congenitale malformatie van de ledematen gekarakteriseerd door korte middelste falangen van de 2de en 5de vingers en afwezigheid van de falangen van tenen 2 tot 5. Occasioneel kan de 4de vinger aangetast zijn, wat zich manifesteert met een abnormaal gevormde middelste falanx die radiale afwijking van de distale falanx veroorzaakt. Andere malformaties van handen/voeten, zoals syndactylie, polydactylie, reductiedefecten en symfalangisme, kunnen geassocieerd zijn."},"pt":{"name":"Braquidactilia tipo A4","synonyms":["Braquidactilia, tipo Temtamy","Braquimesofalangia II e V"],"definition":"A braquidactilia tipo A4 (BDA4) é uma malformação congénita caracterizada por braquimesofalangia afetando o 2º e o 5º dedo."},"pl":{"name":"Brachydaktylia typu A4","synonyms":["Brachydaktylia, typ Temtamy","Brachymezofalangia II i V"]},"cs":{"name":"Brachydaktylie, typ A4","synonyms":["Brachydaktylie, Temtamyové typ","Brachymezofalangie II a V"]},"uk":{"name":"Брахідактилія, тип А4","synonyms":["Брахідактилія, тип Темтамі","Брахімезофаланга II і V"],"definition":"A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated."},"zh":{"name":"短指（趾）畸形A4型","synonyms":["短中指（趾）畸形II和V型"],"definition":"一种罕见的先天性肢体畸形，其特征是第二和第五指的中指骨短，第二到第五趾的中趾骨缺失。偶尔，第四指/趾也会受累，表现为中指/趾骨形状异常，导致远端指/趾骨桡侧偏斜。其他手/足畸形，如并指/趾畸形、多指/趾畸形、少指/趾畸形和指关节粘连也可能相关。"},"tr":{"name":"Brakidaktili tip A4","synonyms":["Brakidaktili, Temtamy tipi","Brakimezofalanji II ve V"]}},"xrefs":[{"source":"OMIM","code":"112800","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":"10379198"},{"source":"MONDO","code":"0007218","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537097","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862139","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"990","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18554391[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009577","label":"Short middle phalanx of the 2nd finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004220","label":"Short middle phalanx of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006239","label":"Shortening of all middle phalanges of the toes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","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:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}