Citation, DOI, disclosures and article data
Citation:
Radswiki T, Knipe H, Skalina T, et al. Greig cephalopolysyndactyly syndrome. Reference article, Radiopaedia.org (Accessed on 06 Mar 2025) https://doi.org/10.53347/rID-15078
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.
History and etymology
David Middleton Grieg (1864-1936) Scottish surgeon, first described this syndrome in 1926 5.
-
1. Nampoothiri S, Kuthiroly S, Fauth C et-al. Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs. 2011;doi:10.1002/ajmg.a.34205 - Pubmed citation
-
2. Biesecker LG. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis. 2008;3 : 10. doi:10.1186/1750-1172-3-10 - Free text at pubmed - Pubmed citation
-
3. Gollop TR, Fontes LR. The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. Am. J. Med. Genet. 1985;22 (1): 59-68. doi:10.1002/ajmg.1320220106 - Pubmed citation
-
4. Ausems MG, Ippel PF, Renardel de lavalette PA. Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. Clin. Dysmorphol. 1994;3 (1): 21-30. - Pubmed citation
-
5. C. D. Waterston, A. Macmillan Shearer. Former fellows of The Royal Society of Edinburgh, 1783-2002. (2006) ISBN: 9780902198845
Promoted articles (advertising)
Unable to process the form. Check for errors and try again.