Conditions / Genetic

Noonan syndrome 5

info · Genetic · ICD-10: Q87.1

A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.

Signs and symptoms

  • Hypertelorism
  • Downslanted palpebral fissures
  • Short stature
  • Thickened helices
  • Ptosis
  • Low-set ears
  • Prominent forehead
  • Macrocephaly
  • Hypertrophic cardiomyopathy
  • Mandibular prognathia

Also known as: NS5