Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the limbs, head, and face. It is caused by mutations in the GLI3 gene located on chromosome 7p14.1, which encodes a transcription factor critical for embryonic development. The condition is also known as Greig cephalopolysyndactyly or GCPS, and was first described by David Greig in 1926. The hallmark features of GCPS involve the limbs and craniofacial structures. Limb abnormalities include preaxial polydactyly (extra digits on the thumb or great toe side) or mixed preaxial and postaxial polydactyly, broad thumbs and great toes, and cutaneous syndactyly (webbing between fingers and toes, most commonly between the third and fourth fingers). Craniofacial features include macrocephaly (abnormally large head), a high and prominent forehead (frontal bossing), and widely spaced eyes (ocular hypertelorism). The severity of these features can vary considerably, even among affected members of the same family. Most individuals with GCPS have normal intelligence and life expectancy. In some cases, particularly those involving larger chromosomal deletions encompassing GLI3 and neighboring genes (contiguous gene deletion syndrome), intellectual disability, seizures, and other complications may occur. There is no specific cure for GCPS. Treatment is supportive and may include surgical correction of polydactyly or syndactyly to improve hand and foot function and appearance. Genetic counseling is recommended for affected families. Regular monitoring of head circumference in infancy is advised, and neuroimaging may be considered if there are concerns about hydrocephalus or other intracranial abnormalities.

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