Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common. Disease data Classification Malformation syndrome Synonyms Facial dysmorphism-intellectual disability-short stature-deafness syndrome Dysmorfia twarzy - niepełnosprawność intelektualna - niski wzrost - utrata słuchu Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome ORPHA code 2588 OMIM code 139210 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