Neurofibromatosis1 - Noonan Syndrome

Also known as


Mutation of the NF gene causing tumors to grow along the nervous system

Condition details

The condition involves a combination of the features of Neurofibromatosis type 1 and Noonan syndrome. The features can include cafe-au-lait spots on the skin, nerve tumors, skin lumps, slow gross motor skills, heart abnormality, hypermobility, undescended testes, Spine abnormalities, weak muscle tone, wide set eyes, low set ears and a number of other symptoms.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Can manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult


Lay terms Clinical terms
  • Cafe-au-lait Spots Heart Defect Wide Set Eyes Low Set Ears Undescended Testes
  • Hyperpigmented areas of Skin
Lay terms Clinical terms
  • Poor muscle tone
  • Hypermobility
Child 10-18
Lay terms Clinical terms
  • Nerve Tumors Skin Lumps

Affected genes identified to date

  • NF1

Inheritance patterns

Are carriers affected?

How many are affected?

Support groups and organisations


Known experts

No experts found

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