Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Disease data Klasyfikacja Malformation syndrome Synonimy Deafness-cataract-skeletal anomalies syndrome Głuchota - zaćma - wady szkieletu Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome Kod ORPHA 2663 Kod OMIM 255990 Kod ICD10 Q87.8 Kod ICD11 - *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