Greig cephalopolysyndactyly syndrome

Last revised by Henry Knipe on 19 Nov 2019

The Greig cephalopolysyndactyly syndrome (GCPS) is a rare pleiotropic, multiple congenital anomaly syndrome. It is primarily characterized by:

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.

David Middleton Grieg (1864-1936) Scottish surgeon, first described this syndrome in 1926 5.

ADVERTISEMENT: Supporters see fewer/no ads