Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome
Definition
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.
Also known as GCPS, GLI3-related Greig cephalopolysyndactyly spectrum, Greig cephalopolysyndactyly syndrome, Greig cephalosyndactyly syndrome, Greig's syndrome, polysyndactyly with peculiar skull shape — per MONDO