Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss. Disease data Classification Malformation syndrome Synonyms Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome Niedobór hialuronidazy 2 Hyaluronidase 2 deficiency ORPHA code 508476 OMIM code - ICD10 code - 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