Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder. Disease data Classification Malformation syndrome Synonyms Al Awadi-Raas-Rothschild syndrome Aplazja/hipoplazja kończyn i miednicy Ciężki ubytek kończyn Wrodzony brak kości łokciowej i strzałkowej Zespół Al Awadi, Raasa i Rothschilda Aplasia/hypoplasia of limbs and pelvis Congenital absence of ulna and fibula Severe limb deficit ORPHA code 2879 OMIM code 276820 ICD10 code Q87.2 ICD11 code LD2F.1Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl