intellectual disability-short stature-hypertelorism syndrome
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Stoll-GC)raudel-Chauvin syndrome
exact
Stoll-Géraudel-Chauvin syndrome
related
intellectual deficit - short stature - hypertelorism
related
intellectual disability short stature hypertelorism
related
mental retardation short stature hypertelorism
related