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Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

Postaxial polydactyly

A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.

Total: 5

(per page)

PMID (PMCID)
26508445	MIXED_SAMPLE	Adult
	GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
	Patel R, Singh CB, Bhattacharya V, Singh SK, Ali A. Congenit Anom (Kyoto). 2016;56(2):94-7.
	The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G8201>8201A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP).
26508445	MIXED_SAMPLE	Adult
	GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
	Patel R, Singh CB, Bhattacharya V, Singh SK, Ali A. Congenit Anom (Kyoto). 2016;56(2):94-7.
	The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G8201>8201A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP).
25714367	MALE	Adult
	Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
	Tanteles GA, Michaelidou S, Loukianou E, Christophidou-Anastasiadou V, Kleopa KA. Clin Dysmorphol. 2015;24(3):102-5.
	Greig cephalopolysyndactyly syndrome (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including hypertelorism and macrocephaly.
15811011	MALE	Infant
	Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
	Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y. Clin Genet. 2005;67(5):429-33.
	Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly.
3901752	MIXED_SAMPLE	Infant, Newborn
	The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.
	Gollop TR, Fontes LR. Am J Med Genet. 1985;22(1):59-68.
	The Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes.