{"orpha":93321,"name":"Isolated radial hemimelia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital longitudinal deficiency of the radius","Isolated radial club hand","Isolated radial longitidinal meromelia","Isolated radial ray agenesis"],"definition":"A rare congenital limb malformation characterized by partial or total absence of the radius.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93321/","orphanet_url":"https://www.orpha.net/en/disease/detail/93321","names":{"fr":{"name":"Hémimélie radiale isolée","synonyms":["Agénésie du rayon radial isolée","Déficit isolé congénital longitudinal du radius","Main bote radiale isolée","Méromélie longitudinale radiale isolée"],"definition":"Malformation congénitale rare des membres, caractérisée par l'absence partielle ou totale du radius."},"de":{"name":"Hemimelie, isolierte radiale","synonyms":["Klumphand, isolierte radiale","Kongenitale isolierte longitudinale Radiusdefizienz","Radiale isolierte longitudinale Meromelie","Radialstrahl-Agenesie, isolierte"],"definition":"Eine seltene angeborene Extremitätenfehlbildung, bei der die Speiche teilweise oder ganz fehlt."},"es":{"name":"Hemimelia radial aislada","synonyms":["Agenesia aislada del rayo radial","Deficiencia longitudinal congénita aislada del radio","Mano zamba radial aislada","Meromelia longitudinal radial aislada"],"definition":"Es una malformación congénita poco frecuente de las extremidades caracterizada por ausencia parcial o total del radio."},"it":{"name":"Emimelia radiale isolata","synonyms":["Agenesia isolata del raggio radiale","Deficit longitudinale congenito isolato del radio","Mano torta radiale isolata","Meromelia radiale longitudinale isolata"],"definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dall'agenesia parziale o completa del radio."},"nl":{"name":"Geïsoleerde hemimelie van radius","synonyms":["Geïsoleerde agenesie van radius","Geïsoleerde congenitale longitudinale deficiëntie van radius","Geïsoleerde hemimelie van spaakbeen","Geïsoleerde radiale klomphand","Geïsoleerde radiale longitudinale meromelie"],"definition":"Een zeldzame congenitale malformatie van ledematen, gekarakteriseerd door partiële of volledige afwezigheid van radius."},"pt":{"name":"Hemimelia radial isolada","synonyms":["Agenésia radial isolada","Deficiência longitudinal do rádio isolada congénita","Meromelia cubital longitudinal isolada","Mão em taco radial isolada"]},"pl":{"name":"Izolowana hemimelia promieniowa","synonyms":["Promieniowe końsko-szpotawe ustawienie ręki","Meromelia promieniowa podłużna","Wrodzone skrócenie podłużne kości promieniowej"]},"cs":{"name":"Radiální hemimelie","synonyms":["Vrozený longitudinální deficit radia","Radiální clubhand","Radiální longitudinální meromelie","Radiální paprskovitá ageneze"]},"uk":{"name":"Ізольована радіальна гемімелія","synonyms":["Ізольована вроджена поздовжня вада променевої кістки","Ізольована радіальна ключка","Ізольована радіальна лонгітидинальна меромелія","Ізольована радіальна променева агенезія"],"definition":"A rare congenital limb malformation characterized by partial or total absence of the radius."},"zh":{"name":"桡侧半肢畸形","synonyms":["先天性桡骨纵向缺失"],"definition":"桡骨半肢畸形是一种先天性前臂桡骨纵向缺损，其特征是桡骨部分或完全缺失。"},"tr":{"name":"Radyal hemimeli","synonyms":["Radyal yumru el","Radyal ışın agenezisi","Radyal longitidinal meromelia","Radiusun doğumsal longitudinal eksikliği"]}},"xrefs":[{"source":"ICD-10","code":"Q71.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB99.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"653269137"},{"source":"MONDO","code":"0019671","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925047","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"225","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295069,"name":"OBSOLETE: Radial hemimelia, unilateral","status":"inactive"},{"type":"Referred to","orpha":295071,"name":"OBSOLETE: Radial hemimelia, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2130,"name":"Non-syndromic hemimelia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"LMBR1","name":"limb development membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26394607[PMID]","hgnc":"13243","ensembl":"ENSG00000105983","omim":"605522","loci":["7q36.3"]},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26394607[PMID]","hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Validated","source":"28669420[PMID]_34452798[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Validated","source":"28669420[PMID]_34452798[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-03","source":"17105006[PMID]_5478898[PMID]","terms":[{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004243","label":"Abnormality of the scaphoid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004252","label":"Abnormality of the trapezium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010035","label":"Aplasia of the 1st metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009484","label":"Deviation of the hand or of fingers of the hand","frequency":"Very frequent (99-80%)","criteria":null}]}}