Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. Disease data Klasyfikacja Malformation syndrome Synonimy PACS1-related syndrome Zespół niepełnosprawności intelektualnej, dysmorfii czaszkowo-twarzowej oraz wnętrostwa Schuurs-Hoeijmakers syndrome Kod ORPHA 329224 Kod OMIM 615009 Kod ICD10 Q87.0 Kod ICD11 - *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