The Greig cephalopolysyndactyly syndrome (GCPS) is a rare a pleiotropic, multiple congenital anomaly syndrome.
It is primarily characterized by:
- pre-axial polydactyly (most common 2) or
- mixed pre- and post-axial polydactyly
- true ocular hypertelorism
- frontal bossing
Precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1 - 9 per 1,000,000) 2.
GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.
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