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Symptoms of Neurofibromatosis (NF) Type 1

NF type 1 can affect many parts of the body. Most people with NF1 have some combination of these symptoms by age 10. Be aware that this list is not diagnostic of NF1. Only a physician can diagnose you with neurofibromatosis.

Features and neurological dysfunctions associated with NF1

NF1 can affect the skin, eyes, bones, veins, nerves, and a person's general constitution. The following is a list of some of the common features associated with NF type 1:

Skin:

  • Café au lait spots
  • Dermal neurofibromas
  • Freckling

Eye:

Bone:

Also called osseous lesions, bony malformations commonly found in patients with NF1 include the following:

  • Pseudoarthrosis
  • Tibial bowing
  • Sphenoid wing dysplasia

Vascular (vein):

  • Aneurysm
  • Coarctation of the aorta
  • Hypertension
  • Moyamoya disease
  • Renal artery stenosis
  • Stroke

Nervous system:

About 15% of people with NF1 develop brain tumors called gliomas. Gliomas usually develop in childhood, and the most common gliomas associated with NF1 are the following:

Peripheral nervous system:

Learn more about tumors associated with NF type 1.

Other manifestations of NF1 may include:

  • ADHD / Learning disabilities (occur in 75% of patients with NF1)
  • Macrocephaly (abnormally large head circumference)
  • Headache
  • Hearing loss
  • High blood pressure
  • Numbness and/or weakness
  • Scoliosis
  • Short stature

For more information, contact the Johns Hopkins Comprehensive Neurofibromatosis (NF) Center at 410-502-6732.

 
 
 
 
 
 

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