Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:638

Neurofibromatosis-Noonan syndrome

Also called NFNS, Neurofibromatosis type 1-Noonan syndrome

Body system
Skin diseases
Inheritance pattern
Autosomal dominant
Typical age of onset
Infancy, Neonatal
Estimated prevalence
Unknown (Worldwide)
Rarity class
Unknown

ORPHA:638 is classified under "Skin diseases" in the Orphanet nomenclature.

Common signs

  • Abnormality of the face
  • Hypertelorism
  • Webbed neck
  • Downslanted palpebral fissures
  • Ptosis
  • Specific learning disability