Schuurs-Hoeijmakers syndrome
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.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
MRD17
exact
PACS1-related syndrome
related
SHMS
exact
Schuurs-Hoeijmakers syndrome
exact
autosomal dominant intellectual disability 17
exact
autosomal dominant intellectual disability-17
related
intellectual disability, autosomal dominant 17
related
intellectual disability, autosomal dominant type 17
exact
intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
exact
mental retardation, autosomal dominant 17
related
mental retardation, autosomal dominant type 17
exact