Neurofibromatosis

Summary

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.

There are three types of neurofibromatosis:

• Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth.
• Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years.
• Schwannomatosis causes intense pain. It is the rarest type.

Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines.

NIH: National Institute of Neurological Disorders and Stroke

National Institute of Neurological Disorders and Stroke

Related Issues

• About Learning Disabilities and NF Children’s Tumor Foundation

Specifics

• About Neurofibromatosis 1 Children’s Tumor Foundation
• Neurofibromatosis American Association for Pediatric Ophthalmology and Strabismus
• Newly Diagnosed with NF2 (Neurofibromatosis Type 2): A Guide to the Basics Children’s Tumor Foundation
• Schwannomatosis Children’s Tumor Foundation
• Segmental NF: A Guide for Patients Children’s Tumor Foundation
• Vestibular Schwannoma (Acoustic Neuroma) and Neurofibromatosis National Institute on Deafness and Other Communication Disorders

Clinical Trials

• ClinicalTrials.gov: Neurofibromatoses National Institutes of Health
• ClinicalTrials.gov: Neurofibromatosis 1 National Institutes of Health

Teenagers

• Facing Neurofibromatosis: A Guide for Teens Children’s Tumor Foundation

Genetics

• Learn about NF Children’s Tumor Foundation
• Neurofibromatosis type 1: MedlinePlus Genetics National Library of Medicine
• Neurofibromatosis type 2: MedlinePlus Genetics National Library of Medicine
• Schwannomatosis: MedlinePlus Genetics National Library of Medicine

Start Here

• Learning about Neurofibromatosis National Human Genome Research Institute
• Neurofibromatosis National Institute of Neurological Disorders and Stroke

Find an Expert

• March of Dimes Foundation March of Dimes Foundation
• National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke
• Neurofibromatosis Specialists Children’s Tumor Foundation

Patient Handouts

• Neurofibromatosis 2 Medical Encyclopedia
• Neurofibromatosis-1 Medical Encyclopedia
• Optic glioma Medical Encyclopedia

Children

• Neurofibromatosis Type 1 (For Parents) Nemours Foundation

Journal Articles

• Neurofibromatosis