Conditions / Syndrome

Beare-Stevenson cutis gyrata syndrome

info ยท Syndrome

A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.

Signs and symptoms

  • Palmoplantar cutis laxa
  • Narrow mouth
  • Skin tags
  • Hypoplastic fingernail
  • Hypertelorism
  • Overlapping toe
  • Hydrocephalus
  • Acanthosis nigricans
  • Exodeviation
  • Posteriorly rotated ears