SNP Shot: Genomic Insights

Greig cephalopolysyndactyly syndrome (GCPS) is a developmental condition impacting the limbs, head, and face. The symptoms of GCPS vary significantly in severity. Common features include extra fingers or toes (polydactyly) and/or an unusually broad thumb or big toe (hallux). Skin fusion between fingers and toes (cutaneous syndactyly) may also be present. Other typical characteristics include widely spaced eyes (ocular hypertelorism), an enlarged head (macrocephaly), and a prominent, high forehead. In rare instances, individuals with GCPS may experience more serious complications such as seizures, developmental delays, and intellectual disability.

Inheritance:

GCPS follows an autosomal dominant inheritance pattern. This means that only one copy of a mutated or absent GLI3 gene in each cell is enough to cause the syndrome. Sometimes, an individual inherits the mutated gene or chromosomal issue from a parent who also has GCPS. However, GCPS can also occur spontaneously in individuals with no family history of the condition.