Beare – Stevenson Syndrome

Last Updated: 2019-08-26

Author(s): -

Beare 1969

Stevenson 1978

Cutis - verticis - gyrata syndrome

Cutis gyrata syndrome

Cutis - verticis - gyrata syndrome

Cutis gyrata syndrome

Autosomal dominant mutation of FGFR2 (fibroblasts - growth factor - receptor 2).

Cutis gyrata (scalp and preauricular region as well as palmoplantar)

Acanthosis nigricans

Extracutaneous manifestation:

  • Neurological deficits
  • Congenital teeth
  • Atresia of nasal cavities, genital and anal exit.
  • Hypertelorism

Clinic

Genetic analysis

No causal therapy possible.

  1.  Walker KA, Sims-Lucas S, Bates CM. Fibroblast growth factor receptor signaling in kidney and lower urinary tract development. Pediatr Nephrol. 2016 Jun;31(6):885-95.
  2.  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.