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    Beare-Stevenson Cutis Gyrata Syndrome

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    Submitted by: Catherine Yang
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    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.

    1. Introduction

    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.

    2. Frequency

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

    3. Causes

    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.

    4. Inheritance

    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.

    5. Other Names for This Condition

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

    The entry is from https://medlineplus.gov/genetics/condition/beare-stevenson-cutis-gyrata-syndrome

    References

    1. Chen L, Deng CX. Roles of FGF signaling in skeletal development and humangenetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review.
    2. Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH. The firstKorean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in thefibroblast growth factor receptor 2 gene. J Korean Med Sci. 2007 Apr;22(2):352-6.
    3. Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr. Beare-Stevenson cutisgyrata syndrome. Am J Med Genet. 1992 Sep 1;44(1):82-9.
    4. Izakovic J, Leitner S, Schachner LA. What syndrome is this? Beare-Stevensoncutis gyrata syndrome. Pediatr Dermatol. 2003 Jul-Aug;20(4):358-60.
    5. 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 reviewof the FGFR2 Y375C mutation phenotype. Clin Dysmorphol. 2006 Apr;15(2):89-93.Review.
    6. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, HallBD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Fibroblast growth factor receptor2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996Aug;13(4):492-4.
    7. Ron N, Leung S, Carney E, Gerber A, David KL. A Case of Beare-StevensonSyndrome with Unusual Manifestations. Am J Case Rep. 2016 Apr 15;17:254-8.
    8. 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 SouthAmerican patients with FGFR2 analysis. Am J Med Genet A. 2003 Aug15;121A(1):41-6.
    9. Wang TJ, Huang CB, Tsai FJ, Wu JY, Lai RB, Hsiao M. Mutation in the FGFR2 genein a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin Genet.2002 Mar;61(3):218-21.
    10. Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998Oct 20 [updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1455/
    11. 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.
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