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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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Overview



What is Greig cephalopolysyndactyly syndrome?

What are the signs and symptoms of Greig cephalopolysyndactyly syndrome?

What causes Greig cephalopolysyndactyly syndrome?

How is Greig cephalopolysyndactyly syndrome inherited?


What is Greig cephalopolysyndactyly syndrome?

Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern.[1]
Last updated: 4/8/2011

What are the signs and symptoms of Greig cephalopolysyndactyly syndrome?

The features of Greig cephalopolysyndactyly syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability.[1]
Last updated: 4/8/2011

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

How is Greig cephalopolysyndactyly syndrome inherited?

This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family.[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.