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Greig cephalopolysyndactyly syndrome

rare

A syndromic disease caused by a variation in the GLI3 gene, characterized by hypertelorism, macrocephaly accompanied by frontal bossing, and polysyndactyly. The polydactyly is most frequently preaxial in the feet and postaxial in the hands, with variable cutaneous syndactyly. The limb findings are quite variable. Less common features are central nervous system abnormalities, hernias, and neurological disability.

Causal genes
GLI3
Also known as
GCPS · GLI3-related Greig cephalopolysyndactyly spectrum · Greig cephalosyndactyly syndrome · Greig syndrome · Greig's syndrome
Disease Subtypes
Greig cephalopolysyndactyly-contiguous gene syndrome

Rare disease

Projects

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