Greig cephalopolysyndactyly syndrome

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

Preaxial polydactyly

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


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PMID (PMCID)
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.