There are a wide range of clinical features associated with NF1, with some features being more present than others. Almost every organ system in the body seems to be involved with NF1 also.

Some of the signs and symptoms of NF1 include:

  • Café-au-lait macules (CALMs) are tan to dark brown patches that are haphazardly distributed across the body (except the scalp, palms of the hands, and soles of the feet).
  • Neurofibromas, are benign abnormal growths or tumours that can develop on the skin and along the nerves.
  • Freckling of the skin that typically cluster in skin folds (e.g., armpit, creases of the legs).
  • Lisch nodules, are tan-coloured spots situated on the coloured portion of the eye that looks like small freckles.
  • An increased risk of having a learning disability such as autism spectrum disorder
  • Seizures
  • A head size that is generally larger
  • High blood pressure
  • Problems in the development of the bones, can cause:
    • Abnormal bumps across the limbs that appear to be joints but are not.
    • Deformed body parts, including the face.
    • A curved spine (also known as scoliosis).
    • Bones that are fragile and can break readily.
    • A shorter stature for your age.

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