Greig cephalopolysyndactyly syndrome

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

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


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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.
23776344
(3681123)
 OTHER
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).
Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P.
Appl Clin Genet. 2008;1:19-22.
We report on a six years old boy with several features of Greig cephalopolysyndactyly syndrome (GCPS) including craniofacial dysmorphism, hypertelorism, heart defect, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay.