Greig cephalopolysyndactyly syndrome
A syndromic disease caused by a variation in the GLI3 gene, characterized by hypertelorism, macrocephaly accompanied by frontal bossing, and polysyndactyly. The polydactyly is most frequently preaxial in the feet and postaxial in the hands, with variable cutaneous syndactyly. The limb findings are quite variable. Less common features are central nervous system abnormalities, hernias, and neurological disability.
MONDO:0019796
acrocephalosyndactyly
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0800066
polydactyly-syndactyly-triphalangism
is_a
GCPS
exact
GLI3-related Greig cephalopolysyndactyly spectrum
exact
Greig cephalopolysyndactyly syndrome
exact
Greig cephalosyndactyly syndrome
exact
Greig syndrome
related
Greig's syndrome
exact
polysyndactyly with peculiar skull shape
exact