Greig cephalopolysyndactyly syndrome

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

Syndactyly

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\".


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PMID (PMCID)
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.
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.