{"orpha":93320,"name":"Isolated ulnar hemimelia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital longitudinal deficiency of the ulna","Isolated ulnar clubhand","Isolated ulnar deficiency of forearm","Isolated ulnar longitudinal meromelia"],"definition":"A rare congenital limb malformation characterized by complete or partial absence of the ulna.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93320/","orphanet_url":"https://www.orpha.net/en/disease/detail/93320","names":{"fr":{"name":"Hémimélie cubitale isolée","synonyms":["Déficit isolé congénital longitudinal de l'ulna","Déficit isolé congénital longitudinal du cubitus","Hémimélie ulnaire isolée","Main bote cubitale isolée","Méromélie cubitale longitudinale isolée","Méromélie ulnaire longitudinale isolée"],"definition":"Anomalie congénitale rare des membres, caractérisée par l'absence complète ou partielle de l'ulna."},"de":{"name":"Hemimelie, isolierte ulnare","synonyms":["Isolierte angeborene longitudinale Fehlbildung der Elle","Isolierte ulnare Klumphand","Kongenitale longitudinale Ulnadefizienz","Ulnare longitudinale Meromelie"],"definition":"Eine seltene angeborene Extremitätenfehlbildung, bei der die Elle ganz oder teilweise fehlt."},"es":{"name":"Hemimelia cubital aislada","synonyms":["Deficiencia cubital del antebrazo aislada","Deficiencia longitudinal congénita aislada del cúbito","Mano zamba cubital aislada","Meromelia longitudinal cubital aislada"],"definition":"Es una malformación congénita poco frecuente de las extremidades caracterizada por la ausencia total o parcial del cúbito."},"it":{"name":"Emimelia ulnare isolata","synonyms":["Deficit longitudinale congenito isolato dell'ulna","Deficit ulnare isolato dell'avambraccio","Difetto congenito longitudinale dell'ulna","Mano torta ulnare","Mano torta ulnare isolata","Meromelia longitudinale ulnare","Meromelia ulnare longitudinale isolata"],"definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dall'agenesia completa o parziale dell'ulna."},"nl":{"name":"Geïsoleerde hemimelie van ulna","synonyms":["Geïsoleerde congenitale longitudinale deficiëntie van ulna","Geïsoleerde hemimelie van ellepijp","Geïsoleerde ulnaire deficiëntie van onderarm","Geïsoleerde ulnaire klomphand","Geïsoleerde ulnaire longitudinale meromelie"],"definition":"Een zeldzame congenitale malformatie van ledemaat, gekarakteriseerd door volledige of gedeeltelijke afwezigheid van ulna."},"pt":{"name":"Hemimelia cubital isolada","synonyms":["Deficiência cubital do antebraço isolada","Deficiência longitudinal do cúbito isolada congénita","Meromelia cubital longitudinal isolada","Mão em taco cubital isolada"]},"pl":{"name":"Izolowana hemimelia łokciowa","synonyms":["Łokciowe końsko-szpotawe ustawienie ręki","Meromelia łokciowa podłużna","Wrodzone skrócenie podłużne kości łokciowej"]},"cs":{"name":"Ulnární hemimelie","synonyms":["Vrozený longitudinální deficit ulny","Ulnární clubhand","Ulnární longitudinální meromelie"]},"uk":{"name":"Ізольована ліктьова гемімелія","synonyms":["Ізольований вроджений поздовжній дефект ліктьової кістки","Ізольована ліктьова кисть","Ізольований ліктьовий дефект передпліччя","Ізольована ліктьова поздовжня меромелія"],"definition":"A rare congenital limb malformation characterized by complete or partial absence of the ulna."},"zh":{"name":"尺侧半肢畸形","synonyms":["先天性尺骨纵向缺失"],"definition":"尺骨半肢畸形是一种先天性前臂尺骨缺损，其特征是尺骨完全或部分缺失。"},"tr":{"name":"Ulnar hemimeli","synonyms":["Ulnar yumru el","Longitudinal ulnar meromeli","Ulnanın doğumsal longitudinal eksikliği"]}},"xrefs":[{"source":"ICD-10","code":"Q71.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB99.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1136383237"},{"source":"MONDO","code":"0019670","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925048","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295073,"name":"OBSOLETE: Ulnar hemimelia, bilateral","status":"inactive"},{"type":"Referred to","orpha":295075,"name":"OBSOLETE: Ulnar hemimelia, unilateral","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-16","source":"31524738[PMID]_6630492[PMID]_27843519[PMID]_30712123[PMID]","terms":[{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040070","label":"Abnormal upper limb bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003059","label":"Abnormality of the radioulnar joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009380","label":"Finger aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002996","label":"Limited elbow movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005773","label":"Short forearm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006055","label":"Ulnar deviated club hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009164","label":"Abnormal calcification of the carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010011","label":"Abnormality of the 3rd metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003887","label":"Abnormality of the humeral heads","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100745","label":"Abnormality of the humeroulnar joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009760","label":"Antecubital pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010048","label":"Aplasia of metacarpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009281","label":"Aplasia of the 4th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009238","label":"Aplasia of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010331","label":"Aplasia/Hypoplasia of the 3rd toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009702","label":"Carpal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005879","label":"Congenital finger flexion contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009471","label":"Contracture of the proximal interphalangeal joint of the 3rd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010176","label":"Curved toe phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009959","label":"Duplication of phalanx of 3rd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030835","label":"Elbow pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006633","label":"Glenoid fossa hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100558","label":"Hemiatrophy of upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003041","label":"Humeroradial synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006376","label":"Limited elbow flexion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006467","label":"Limited shoulder movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009701","label":"Metacarpal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003967","label":"Sclerotic forearm bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010301","label":"Spinal dysraphism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009813","label":"Upper limb phocomelia","frequency":"Occasional (29-5%)","criteria":null}]}}