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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).[1]The features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. Progression of GCPS is dependent on severity. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern. Treatment is symptomatic.[2]
Last updated: 12/10/2015

References

  1. Greig cephalopolysyndactyly syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome. Accessed 12/10/2015.
  2. Leslie G Biesecker, MD. Greig Cephalopolysyndactyly Syndrome. GeneReviews. 6/19/2014; http://www.ncbi.nlm.nih.gov/books/NBK1446/. Accessed 12/10/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Greig cephalopolysyndactyly syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Greig cephalopolysyndactyly syndrome. Click on the link to view a sample search on this topic.
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.