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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Greig cephalopolysyndactyly syndrome


Other Names for this Disease
  • GCPS
  • Greig syndrome
  • Polysyndactyly with peculiar skull shape
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Cause


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What causes Greig cephalopolysyndactyly syndrome?

Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.[1]

Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality—such as a large deletion or rearrangement of genetic material—in the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.[1]

Last updated: 4/8/2011

References
  1. Greig cephalopolysyndactyly syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome. Accessed 4/8/2011.