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Diseases

Genetic and Rare Diseases Information Center (GARD)

Greig cephalopolysyndactyly syndrome


Other Names for this Disease
  • GCPS
  • Greig syndrome
  • Polysyndactyly with peculiar skull shape
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Tests & Diagnosis

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Is genetic testing available for Greig cephalopolysyndactyly syndrome?

Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GCPS.[1]
Last updated: 12/16/2015

How is Greig cephalopolysyndactyly syndrome diagnosed? 

Greig cephalopolysyndactyly syndrome (GCPS) is diagnosed based on clinical findings and family history. Major findings of GCPS include:
  • an abnormally large head size (macrocephaly) greater than the 97th percentile
  • widely spaced eyes (ocular hypertelorism)
  • limb anomalies including extra fingers or toes (polydactyly)
  • fused skin between the fingers and toes (cutaneous syndactyly)

  • A diagnosis is established in a first degree relative of a known affected individual if that person has polydactyly with or without syndactyly or craniofacial features (macrocephaly, widely spaced eyes). A diagnosis is additionally established in a person who has features of GCPS and a mutation in the GLI3 gene.[1]
    Last updated: 12/16/2015

    References
    1. Leslie G Biesecker, MD. Greig Cephalopolysyndactyly Syndrome. GeneReviews. 6/19/2014; http://www.ncbi.nlm.nih.gov/books/NBK1446/. Accessed 12/10/2015.


    Testing

    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
    Other Names for this Disease
    • GCPS
    • Greig syndrome
    • Polysyndactyly with peculiar skull shape
    See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.