Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Malformation syndrome Synonyms Deafness-cataract-skeletal anomalies syndrome Głuchota - zaćma - wady szkieletu Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome ORPHA code 2663 OMIM code 255990 ICD10 code Q87.8 ICD11 code - *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