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Beare-Stevenson cutis gyrata syndrome

Reviewed February 2008

What is Beare-Stevenson cutis gyrata syndrome?

Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities 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.

Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability.

A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region.

Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.

How common is Beare-Stevenson cutis gyrata syndrome?

Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide.

What genes are related to Beare-Stevenson cutis gyrata syndrome?

Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes prolonged signaling, which is thought to interfere with skeletal and skin development.

Some individuals with Beare-Stevenson cutis gyrata syndrome do not have identified mutations in the FGFR2 gene. In these cases, the cause of the condition is unknown.

Related Gene(s)

Changes in this gene are associated with Beare-Stevenson cutis gyrata syndrome.

  • FGFR2

How do people inherit Beare-Stevenson cutis gyrata syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of Beare-Stevenson cutis gyrata syndrome?

These resources address the diagnosis or management of Beare-Stevenson cutis gyrata syndrome and may include treatment providers.

  • Gene Review: FGFR-Related Craniosynostosis (http://www.ncbi.nlm.nih.gov/books/NBK1455/)
  • Genetic Testing Registry: Cutis Gyrata syndrome of Beare and Stevenson (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1852406)
  • MedlinePlus Encyclopedia: Acanthosis Nigricans (http://www.nlm.nih.gov/medlineplus/ency/article/000852.htm)
  • MedlinePlus Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)

You might also find information on the diagnosis or management of Beare-Stevenson cutis gyrata syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Beare-Stevenson cutis gyrata syndrome?

You may find the following resources about Beare-Stevenson cutis gyrata syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Beare-Stevenson cutis gyrata syndrome?

  • cutis gyrata syndrome of Beare and Stevenson
  • cutis gyrata syndrome of Beare-Stevenson

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Beare-Stevenson cutis gyrata syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Beare-Stevenson cutis gyrata syndrome?

acanthosis nigricans ; anus ; atresia ; autosomal ; autosomal dominant ; bulging eyes ; cell ; craniosynostosis ; disability ; fibroblast ; gene ; genitalia ; growth factor ; incidence ; inherited ; mutation ; protein ; receptor ; syndrome ; tissue ; upper jaw

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15769677?dopt=Abstract)
  • Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH. The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. J Korean Med Sci. 2007 Apr;22(2):352-6. (http://www.ncbi.nlm.nih.gov/pubmed/17449949?dopt=Abstract)
  • Gene Review: FGFR-Related Craniosynostosis (http://www.ncbi.nlm.nih.gov/books/NBK1455/)
  • Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr. Beare-Stevenson cutis gyrata syndrome. Am J Med Genet. 1992 Sep 1;44(1):82-9. (http://www.ncbi.nlm.nih.gov/pubmed/1519658?dopt=Abstract)
  • Izakovic J, Leitner S, Schachner LA. What syndrome is this? Beare-Stevenson cutis gyrata syndrome. Pediatr Dermatol. 2003 Jul-Aug;20(4):358-60. (http://www.ncbi.nlm.nih.gov/pubmed/12869163?dopt=Abstract)
  • McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clin Dysmorphol. 2006 Apr;15(2):89-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16531735?dopt=Abstract)
  • Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996 Aug;13(4):492-4. (http://www.ncbi.nlm.nih.gov/pubmed/8696350?dopt=Abstract)
  • Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, Parra M, Muñoz H, Maranduba CM, Passos-Bueno MR. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet A. 2003 Aug 15;121A(1):41-6. (http://www.ncbi.nlm.nih.gov/pubmed/12900900?dopt=Abstract)
  • Wang TJ, Huang CB, Tsai FJ, Wu JY, Lai RB, Hsiao M. Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin Genet. 2002 Mar;61(3):218-21. (http://www.ncbi.nlm.nih.gov/pubmed/12000365?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: August 18, 2014