Greig cephalopolysyndactyly syndrome

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

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


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PMID (PMCID)
31010437
 OTHER
Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.
Siracusano M, Riccioni A, Baratta A, Baldi M, Curatolo P, Mazzone L.
J Med Case Rep. 2019;13(1):100.
Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism.
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.
24222286
 MALE Infant
Crossed polydactyly and Greig cephalopolysyndactyly syndrome.
Uppuluri R, Gowrishankar K, Janakiraman L.
Indian Pediatr. 2013;50(10):967-8.
Greig cephalopolysyndactyly syndrome is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, macrocephaly and hypertelorism.
21910233
 FEMALE Infant
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
Nampoothiri S, Kuthiroly S, Fauth C, Krabichler B, Attie-Bitach T, Hennekam RC.
Am J Med Genet A. 2011;155A(10):2465-8.
The patients also resemble Greig cephalopolysyndactyly syndrome but the absence of macrocephaly, broad thumbs, polydactyly, affected sibs and parents make this diagnosis unlikely.
15759260
 MIXED_SAMPLE Infant
Retrospective family study of childhood medulloblastoma.
Ng D, Stavrou T, Liu L, Taylor MD, Gold B, Dean M, Kelley MJ, Dubovsky EC, Vezina G, Nicholson HS, Byrne J, Rutka JT, Hogg D, Reaman GH, Goldstein AM.
Am J Med Genet A. 2005;134(4):399-403.
We performed a clinical evaluation for Greig cephalopolysyndactyly syndrome (GCPS) in four medulloblastoma families, who exhibited macrocephaly as the only finding consistent with the diagnosis of GCPS.
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.