Greig cephalopolysyndactyly syndrome

Greig syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by craniofacial abnormalities, polydactyly (extra fingers or toes), and syndactyly (webbing of fingers or toes). The syndrome is named after the Scottish physician David Middleton Greig, who first described the condition.

Presentation

Individuals with Greig cephalopolysyndactyly syndrome typically present with a combination of the following features:

• Macrocephaly (an abnormally large head)
• Hypertelorism (wide-set eyes)
• Polydactyly (extra digits on the hands and/or feet)
• Syndactyly (fusion of the fingers and/or toes)
• Developmental delay and intellectual disability in some cases

Genetics

GCPS is caused by mutations in the GLI3 gene, which plays a crucial role in the development of various body parts during embryogenesis. The condition follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Greig cephalopolysyndactyly syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the GLI3 gene. Prenatal diagnosis is possible if there is a known family history of the condition.

Management

There is no cure for GCPS, and treatment is symptomatic and supportive. Management may include:

• Surgical correction of polydactyly and syndactyly
• Early intervention programs for developmental delays
• Regular monitoring and supportive care for associated health issues

Epidemiology

Greig cephalopolysyndactyly syndrome is a rare condition, with its exact prevalence unknown. It affects both males and females equally.

See also

• Polydactyly
• Syndactyly
• Macrocephaly
• Hypertelorism
• GLI3

External links

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