Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features 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), a malformation of the airways (tracheal cartilaginous sleeve), 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.

Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Approximately 25 people with this condition have been reported worldwide.

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.

Genetic Testing Information

• Genetic Testing Registry: Beare-Stevenson cutis gyrata syndrome

Genetic and Rare Diseases Information Center

• Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Patient Support and Advocacy Resources

• National Organization for Rare Disorders (NORD)

Catalog of Genes and Diseases from OMIM

• BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS

Scientific Articles on PubMed

• PubMed

• Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. doi: 10.2741/1671. Citation on PubMed
• 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. doi: 10.3346/jkms.2007.22.2.352. Citation on PubMed or Free article on PubMed Central
• 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. doi: 10.1002/ajmg.1320440120. Citation on PubMed
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• Ron N, Leung S, Carney E, Gerber A, David KL. A Case of Beare-Stevenson Syndrome with Unusual Manifestations. Am J Case Rep. 2016 Apr 15;17:254-8. doi: 10.12659/ajcr.897177. Citation on PubMed or Free article on PubMed Central
• Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, Parra M, Munoz 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. doi: 10.1002/ajmg.a.20101. Citation on PubMed
• 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. doi: 10.1034/j.1399-0004.2002.610309.x. Citation on PubMed
• Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [updated 2020 Apr 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1455/ Citation on PubMed
• Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH. Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve. Am J Med Genet A. 2015 Apr;167A(4):852-7. doi: 10.1002/ajmg.a.36985. Epub 2015 Feb 23. Citation on PubMed