{"orpha":93409,"name":"Brachydactyly-syndactyly, Zhao type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93409/","orphanet_url":"https://www.orpha.net/en/disease/detail/93409","names":{"fr":{"name":"Brachydactylie-syndactylie type Zhao","definition":"La brachydactylie-syndactylie type Zhao est un syndrome récemment décrit associant une brachydactylie type A4 (raccourcissement des phalanges intermédiaires des 2es et 5es doigts et absence des phalanges intermédiaires des 2es aux 5es orteils) et une syndactylie des 2es et 3es orteils. Des anomalies des métacarpiens et des métatarsiens sont fréquemment associées."},"de":{"name":"Brachydaktylie-Syndaktylie Typ Zhao","definition":"Der Typ Zhao der Brachydaktylie-Syndaktylie ist ein kürzlich beschriebenes Syndrom, das den Typ A4 der Brachydaktylie (kurze Mittelphalangen der zweiten und fünften Finger, sowie fehlende Mittelphalangen der zweiten und fünften Zehe) mit einer Syndaktylie der zweiten und dritten Zehe verbindet. Häufig bestehen gleichzeitig Anomalien der Metacarpalia und Metatarsalia."},"es":{"name":"Braquidactilia-sindactilia, tipo Zhao","definition":"Es un síndrome que asocia braquidactilia tipo A4 (acortamiento de la falange media de los dedos II y V de la mano y ausencia de la falange media de los dedos II y V del pie) y sindactilia de los dedos II y III del pie. Son comunes las anomalías de metacarpianos y metatarsianos."},"it":{"name":"Brachidattilia - sindattilia, tipo Zhao"},"nl":{"name":"Brachydactylie-syndactylie, Zhao-type","definition":"Een syndroom, gekenmerkt door associatie van brachydactylie type A4 (korte middelste falangen van 2de en 5de vingers en afwezigheid van middelste falangen van 2de tot 5de tenen) met syndactylie van 2de en 3de tenen. Anomalieën van metacarpalen en metatarsalen zijn gangbaar."},"pt":{"name":"Braquidactilia-sindactilia, tipo Zhao","definition":"A braquidactilia-sindactilia, tipo Zhao é uma síndrome recentemente descrita associando uma braquidactilia tipo A4 (falanges médias curtas dos 2º e 5º dedos da mão e ausência das falanges médias do 2º ao 5º dedos dos pés) e uma sindactilia dos dedos dos pés 2 e 3. São comuns anomalias dos metacarpos e dos metatarsos."},"pl":{"name":"Brachydaktylia-syndaktylia typu Zhao"},"cs":{"name":"Brachydaktylie a syndaktylie, Zhaové typ"},"uk":{"name":"Брахідактилія-синдактилія, тип Чжао","definition":"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common."},"zh":{"name":"短指（趾）-并指（趾）畸形，赵型","definition":"Zhao型短指/趾并指/趾畸形是最近报道的一种综合征，与短指/趾畸形A4型（第2和第5指中指骨缩短，第2和第5趾中指骨缺失）和第2和第3趾并趾畸形有关。此外，常见掌骨和跖骨异常。"},"tr":{"name":"Brakidaktili-sindaktili, Zhao tipi"}},"xrefs":[{"source":"OMIM","code":"610713","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"482372144"},{"source":"MONDO","code":"12544","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303990","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"HOXD13","name":"homeobox D13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17236141[PMID]","hgnc":"5136","ensembl":"ENSG00000128714","omim":"142989","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17236141[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17236141[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17236141[PMID]","terms":[{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004704","label":"Short fifth metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"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:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null}]}}