Pediatric Neurofibromatosis

Neurofibromatosis (NF) is a genetic disorder that causes growths of tumors to form on nerves. These may occur anywhere in the body. NF is one of the most common genetic disorders. It occurs in every racial and ethnic group and affects both sexes equally. There are at least 100,000 people in the United States with NF. One in every 3,000 to 4,000 babies born has NF. In a city the size of Chicago, as many as 2,300 people have NF. But even though NF is relatively common, not many people have heard about it.

NF is a genetic disorder caused by an abnormal gene in your body. NF is not contagious, which means you can’t catch it from other people. Instead, you can inherit an abnormal gene that causes NF from one of your parents. Or, NF can be caused by a spontaneous gene mutation. 

There are two main types of NF. NF-1 is caused by a change in a gene on chromosome 17. NF-2 is caused by a change in a gene on chromosome 22. 

Identification of the genes for NF offers tremendous hope for the future. For instance, identification of the NF-1 gene has helped us understand how tumors in NF-1 form. As we understand more about the gene, we hope to be able to predict and control the problems caused by the abnormal gene.

Committed Team

Our neurofibromotosis program is led by James Tonsgard, MD, a leading expert who has made it his life's work to care for adults and children with this disorder.

Continuity of Care

Neurofibromotosis requires long-term management and follow-up. Our specialists provide continuity of care as patients transition into adulthood.

Life-Changing Research

To improve the lives of his patients, Dr. Tonsgard co-founded a government-funded consortium researching alternative treatments for NF. His research is focused on finding new drug therapies and uncovering the genetic causes of NF.