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Genetic and Rare Diseases Information Center (GARD)

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Beare-Stevenson cutis gyrata syndrome


Other Names for this Disease
  • Beare stevenson syndrome
  • Cutis Gyrata syndrome of Beare and Stevenson
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Overview

Beare-Stevenson  cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.[1]
Last updated: 3/26/2015

References

  1. Beare-Stevenson cutis gyrata syndrome. Genetics Home Reference (GHR). February 2008; http://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome. Accessed 3/26/2015.
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Please contact us with your questions about Beare-Stevenson cutis gyrata syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.

In Depth Information

  • 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 Beare-Stevenson cutis gyrata syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Beare stevenson syndrome
  • Cutis Gyrata syndrome of Beare and Stevenson
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.