Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, delayed development, and intellectual disability.

Other names

Cephalopolysyndactyly syndrome; GCPS

Inheritance pattern

Autosomal dominant

Related genes

GLI3

Source: MedlinePlus Genetics, U.S. National Library of Medicine.