Greig syndrome

Greig Cephalopolysyndactyly Syndrome

Greig Cephalopolysyndactyly Syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the limbs, head, and face. It is named after the Scottish physician David Middleton Greig, who first described the condition.

Signs and Symptoms

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

• Polydactyly: Extra fingers or toes, often on the thumb or big toe side of the hand or foot.
• Syndactyly: Fusion of fingers or toes, which can vary in severity.
• Macrocephaly: An unusually large head size.
• Facial Dysmorphism: Distinctive facial features, which may include a broad forehead, wide-set eyes, and a flat nasal bridge.

Genetics

Greig syndrome is caused by mutations in the GLI3 gene, which is located on chromosome 7p14.1. The GLI3 gene plays a crucial role in the development of limbs and the central nervous system. Mutations in this gene can disrupt normal development, leading to the characteristic features of the syndrome.

Inheritance

The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent, while in others, the mutation occurs de novo (newly) in the individual.

Diagnosis

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

Management

Management of Greig syndrome is symptomatic and supportive. Treatment may involve:

• Surgical intervention: To correct polydactyly and syndactyly.
• Regular monitoring: For developmental progress and potential complications.
• Genetic counseling: For affected individuals and their families.

Related Conditions

Greig syndrome shares some features with other conditions caused by mutations in the GLI3 gene, such as Pallister-Hall syndrome. It is important to differentiate between these conditions for accurate diagnosis and management.

Research and Future Directions

Ongoing research aims to better understand the molecular mechanisms underlying Greig syndrome and to develop targeted therapies. Advances in genetic testing and counseling continue to improve the management of the condition.

NIH genetic and rare disease info

• NIH info on Greig syndrome

Greig syndrome is a rare disease.