Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. Disease data Classification Malformation syndrome Synonyms Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Afonia - głuchota - dystrofia siatkówki - zdwojenie dużych palców stóp - niepełnosprawność intelektualna Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome ORPHA code 324540 OMIM code - ICD10 code Q87.0 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