By Kaitlin Cusick

How is this disorder passed on?

Neurofibromatosis is normally passed down through genes, inherited by family that has had the disease. So basically, if your Mom or Dad has had the disease, they could have passed it on to you.

What are the symptoms?

Several (usually six or more) cafe au lait spots

Multiple freckles in the armpit or groin area

Tiny growths in the iris (colored area) of the eye; these are called Lisch nodules and usually do not affect eyesight

Neurofibromas that occur on or under the skin, sometimes even deep within the body; these are benign (harmless) tumors; however, in rare cases, they can turn malignant or cancerous

Bone deformities, including a twisted spine (scoliosis) or bowed legs

Tumors along the optic nerve, which may cause eyesight problems

Nerve-related pain

Loss of hearing

Weakness of the muscles of the face


Poor balance

Uncoordinated walking

Cataracts (cloudy areas on the lens of the eye) that develop at an unusually young age

How is this disorder diagnosed?

Physical examination

Medical history

Family history


Computerized tomography (CT) scans

Magnetic resonance imaging (MRI)

Biopsy of neurofibromas

Eye tests

Tests for particular symptoms, such as hearing or balance tests

Genetic testing

How often does it occur?

Occurs in 1 in 3,000 to 4,000 individuals in the United States

Is it rare or common?


How long can individuals live with this disorder?

People can live, long, healthy lives with the disease, most go unaffected by it

What are the treatments for this disorder?

There is no ‘cure’ for neurofibromatosis, only focusing on how to treat the symptoms and make them less malignant and noticeable