Greig cephalopolysyndactyly syndrome GCPS

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical anomalies affecting the head (cranio), fingers, and toes (digits). The syndrome is named after the Scottish physician, David Middleton Greig, who first described it in the early 20th century. GCPS is notable for its variability in expression, meaning that the severity and specific features can differ significantly among affected individuals.

Symptoms and Characteristics

GCPS is primarily identified by a combination of polydactyly (extra fingers or toes), syndactyly (webbed or fused fingers or toes), and macrocephaly (abnormally large head size). Other potential features include:

• A high, prominent forehead
• Widely spaced eyes (hypertelorism)
• Broad nasal bridge
• Mild to moderate intellectual disability

The severity and combination of symptoms can vary widely among individuals with GCPS. Some may have mild physical anomalies and no intellectual disability, while others may have more significant physical and cognitive impairments.

Genetics

GCPS is caused by mutations in the GLI3 gene, which plays a crucial role in regulating the development of tissues and organs during embryonic growth. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. However, there are cases where the mutation occurs for the first time in the affected individual, with no history of the condition in the family.

Diagnosis

Diagnosis of GCPS is based on the physical characteristics and symptoms presented by the individual. Genetic testing can confirm the diagnosis by identifying mutations in the GLI3 gene. Prenatal testing is available for families with a known history of the syndrome.

Treatment

There is no cure for GCPS, and treatment focuses on managing the symptoms and supporting the individual's development and well-being. Surgical interventions may be necessary to correct physical anomalies such as polydactyly or syndactyly. Early intervention programs and educational support can help individuals with intellectual disabilities achieve their full potential.

Prognosis

The prognosis for individuals with GCPS varies depending on the severity of the symptoms. With appropriate medical and educational support, most individuals can lead healthy, productive lives.

See Also

• Polydactyly
• Syndactyly
• Macrocephaly
• Genetic disorder

Greig cephalopolysyndactyly syndrome GCPS Resources
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