Beare - Stevenson - Syndrome

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: LD27.0Y

Beare 1969

Stevenson 1978

Cutis – verticis – gyrata syndrome

Cutis – gyrata syndrome

Craniosynostosis syndrome, which is caused by a mutation of FGFR2 (fibroblast – growth factor – receptor 2.

Autosomal dominant mutation of FGFR2 (fibroblast – growth factor – receptor 2.

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

Acanthosis nigricans

Extracutaneous manifestation:

  • Neurological deficits
  • Connatal teeth
  • Atresia of nasal cavities, genital and anal outlet.
  • 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. 

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