Greig cephalopolysyndactyly syndrome

Definition:

Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.

References:

[1]. E Elson, et al. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet. 2002 Nov;39(11):804-6. [Content Brief]

[2]. Jennifer J Johnston, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005 Apr;76(4):609-22. [Content Brief]

[3]. Leslie G Biesecker, et al. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis. 2008 Apr 24;3:10. [Content Brief]

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