Greig Cephalopolysyndactyly Syndrome synonyms

Greig Cephalopolysyndactyly Syndrome, also known as 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).

Individuals with GCPS typically have distinctive facial features, including a prominent forehead, widely spaced eyes (hypertelorism), a flat nasal bridge, and a broad nasal tip. They may also have a cleft lip and/or palate. The severity of these craniofacial abnormalities can vary among affected individuals.

Polydactyly and syndactyly are common features of GCPS. Polydactyly refers to the presence of extra fingers or toes, while syndactyly refers to the fusion of two or more fingers or toes. The extra digits or fused digits can vary in size and may be fully formed or underdeveloped.

GCPS is caused by mutations in the GLI3 gene, which plays a critical role in the development of limbs and facial structures. These mutations disrupt the normal functioning of the gene, leading to the characteristic features of the syndrome.

Diagnosis of GCPS is typically based on the presence of characteristic physical features and confirmed through genetic testing. Prenatal diagnosis is also possible through genetic testing of fetal cells obtained through chorionic villus sampling or amniocentesis.

Management of GCPS involves a multidisciplinary approach, with treatment tailored to the individual's specific needs. This may include surgical interventions to correct craniofacial abnormalities or hand anomalies. Early intervention and ongoing medical care are important to address any associated health issues and support the individual's overall development and well-being.