What is Greig Cephalopolysyndactyly Syndrome

Greig Cephalopolysyndactyly Syndrome (GCPS) is a rare genetic disorder that affects the development of various parts of the body. It is characterized by a combination of craniofacial abnormalities, polydactyly (extra fingers or toes), and syndactyly (fusion of fingers or toes).

GCPS is caused by mutations in the GLI3 gene, which plays a crucial role in embryonic development. These mutations disrupt the normal functioning of the gene, leading to the characteristic features of the syndrome.

Individuals with GCPS typically have a prominent forehead, widely spaced eyes, and a broad nasal bridge. They may also have additional fingers or toes, which can be fully formed or partially fused. The severity of the syndrome can vary widely among affected individuals.

Diagnosis of GCPS is based on clinical evaluation, including physical examination and assessment of the individual's medical history. Genetic testing can confirm the presence of GLI3 gene mutations.

Treatment for GCPS focuses on managing the specific symptoms and may involve surgical interventions to correct craniofacial or limb abnormalities. Early intervention and ongoing medical care are important to address any associated health issues and support the individual's overall well-being.