/Schuurs-Hoeijmakers syndrome

Schuurs-Hoeijmakers syndrome

Rare Disease

MONDO:0014006

Also Known As

MRD17SHMSSchuurs-Hoeijmakers syndromeautosomal dominant intellectual disability 17autosomal dominant mental retardation 17intellectual disability, autosomal dominant type 17intellectual disability-craniofacial dysmorphism-cryptorchidism syndromemental retardation, autosomal dominant type 17PACS1-related syndromeautosomal dominant intellectual disability-17intellectual disability, autosomal dominant 17mental retardation, autosomal dominant 17

Definition

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 occular defects, may be observed.