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Diseases

Genetic and Rare Diseases Information Center (GARD)

Beare-Stevenson cutis gyrata syndrome


Other Names for this Disease
  • Cutis Gyrata syndrome of Beare and Stevenson
  • Beare stevenson syndrome
  • Cutis gyrata - acanthosis nigricans - craniosynostosis
  • Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
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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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Basic Information

  • Genetics Home Reference (GHR) contains information on Beare-Stevenson cutis gyrata syndrome. This website is maintained by the National Library of Medicine.

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