Greig Cephalopolysyndactyly Syndrome (GCPS)

Greig cephalopolysyndactyly syndrome (GCPS), also known as cephalopolysyndactyly syndrome, is a rare genetic disorder characterized by diverse craniofacial and limb anomalies. GCPS is primarily caused by mutations in the GLI3 gene, a crucial regulator of embryonic development, particularly in the Sonic Hedgehog pathway. Clinical manifestations vary widely, encompassing features such as polydactyly, craniofacial dysmorphism including macrocephaly and ocular hypertelorism, and, less commonly, neurological abnormalities. Diagnosis relies on clinical evaluation and molecular testing for GLI3 mutations. Management involves supportive care, with surgical intervention often necessary for limb malformations. Genetic counselling is imperative due to the autosomal dominant inheritance pattern. Prognosis varies depending on the severity of phenotypic features, with most individuals leading normal lives, although neurological complications can influence outcomes. Early recognition and comprehensive management are essential for optimizing the quality of life for individuals affected by GCPS.