Greig Cephalopolysyndactyly Syndrome

Alternative Names

  • GCPS
  • Polysyndactyly with Peculiar Skull Shape
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

175700

Mode of Inheritance

Autosomal Dominant

Gene Map Locus

7p14.1

Description

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder which influences the growth of the limbs, face, and head. Characteristics of GCPS syndrome differ in patients from very mild to severe. The syndrome features consist of extra fingers or toes (polydactyly), abnormal wide thumb or big toe (hallux), fused skin between the fingers and toes (cutaneous syndactyly), widely spaced eyes (ocular hypertelorism), abnormal size of head (macrocephaly), wide bridge of the nose, and high prominent forehead. Patients with GCPS may seldom suffer from seizures, developmental delay, and intellectual disability.

GCPS syndrome originates due to a mutation in the GLI3 gene which is responsible for normal shaping of the organs and tissues prior to birth.

Molecular Genetics

GCPS syndrome originates due to a mutation in the GLI3 gene which is responsible for normal shaping of the organs and tissues prior to birth. GLI3 gene consists of 1580 amino acids and has a molecular weight of 169.863 kDa. Various genetic alterations might be responsible for GCPS syndrome including a chromosomal abnormality like a large deletion or a change of the genetic material in GLI3 gene in the region of chromosome 7 or a mutation in GLI3 gene itself.

Epidemiology in the Arab World

View Map

Other Reports

Bahrain

Marafie et al. (1996) described the first Bedouin family with two patients suffering from Greig cephalopolysyndactyly syndrome (GCPS) in Kuwait. The two patients represented a father and his son both experiencing shared pre- and post-axial polysyndactyly, mild mental retardation, and corpus callosum dysgenesis. The son was the second child born to unrelated Bedouin parents aged 27 year and 31 years for the mother and father, respectively. The absence of parental consanguinity was confirmed despite the high inbreeding within the father's family. The phenotypic finding of this family was compared to previously reported cases of GCPS and acrocallosal syndromes revealing that this family represents the second report on this rare incidence.

© CAGS 2024. All rights reserved.