Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome is a genetic disorder that disturbs the development of the limbs, head and face, and its features range from very mild to severe. People with it typically have one or more extra fingers or toes, or an unusually wide thumb or big toe. The skin between the digits may be fused, the eyes may be set widely apart, the head may be abnormally large with a high, prominent forehead, and more rarely seizures and developmental delay occur. It is caused by chromosomal changes affecting the GLI3 gene on chromosome 7, either a large deletion or translocation or a mutation in the gene itself, and it is inherited in an autosomal dominant pattern, though rare cases arise sporadically. Diagnosis is usually presumptive, based on the triad of preaxial polydactyly with syndactyly, macrocephaly and hypertelorism, and management centres on surgery for the limb abnormalities. This entry records descriptions and is not medical advice.