Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. Disease data Classification Malformation syndrome Synonyms Cataract-hearing loss-hypogonadism syndrome Zespół Schaapa, Taylora i Baraitsera Schaap-Taylor-Baraitser syndrome ORPHA code 1383 OMIM code - ICD10 code Q87.8 ICD11 code LD2H.Y *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