Neurofibromatosis Program

Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a genetic disorder. An individual may be the first person in their family to have NF1, while others have a parent with NF1. It affects many organ systems in the body, including the bones, the skin, the eyes and the brain. An early sign of the condition can be the presence of many birth marks called café-au-lait spots. It is important to note that individuals without NF1 can have these birthmarks as well. Any child with more than 6 of these birth marks should have an evaluation with an NF1 expert to determine if these skin marks may be a sign of the condition.

People with NF1 typically develop some number of benign (non-cancerous) tumors or growths called neurofibromas. Neurofibromas can grow anywhere in the body where there are nerves, but are often seen just under or on top of the skin.  About half of the children with NF1 will also have some difficulties with learning and attention. All individuals with NF1 should have an evaluation with an NF1 expert at least once per year.

Neurofibromatosis Type 2

Neurofibromatosis type 2 (NF2) is a genetic disorder. An individual may be the first person in their family to have NF2, while others have a parent with NF2. NF2 causes tumors to grow on the auditory vestibular nerves, which are the nerves that help people to hear. These tumors can result in hearing loss and balance problems. People with NF2 are also at an increased risk to develop benign (non-cancerous) tumors on other nerves of the body. All individuals with NF2 should have an evaluation with an NF2 expert at least once per year.

NF1 and NF2 are separate, distinct disorders. These conditions affect both men and women of any race or ethnic group. It is estimated that one out of every 2,500 people in the U.S. has NF1. NF2 is rarer, affecting approximately one out of every 25,000 people.

The Lurie Children's Difference

At the core of our unique approach to pediatric care are our experienced, multidisciplinary teams. Working closely with a pediatric ophthalmologist for diagnosis and monitoring of optic pathway tumors, as well as pediatric orthopaedic surgeons, neurosurgeons and oncologists, the team sees more than 300 patients with neurofibromatosis each year. We provide comprehensive care from the first clinic visit through the transition to adult care.

Services

  • Care coordination
  • Diagnostic evaluation
  • Ophthalmologic evaluation
  • Genetic counseling
  • Genetic testing
  • Medical imaging
  • Referrals
  • Social work
  • School and educational resources
  • Transition to adult care
  • Access to clinical trials and research opportunities
  • Support group connections

Specialists

Make an Appointment

The neurofibromatosis clinic is held the first three Thursdays of each month at our outpatient center in Lincoln Park:

467 West Deming Place
Suite 900
Chicago, IL 60614

NF clinic appointments typically take 2-3 hours. They include evaluations with genetics and ophthalmology with a dilated eye-exam.

To schedule a first-time or return appointment in the NF clinic, please contact the Division of Genetics directly:

Phone: 312.227.6120 | Fax: 312.227.9413

Questions

For more information, please call program coordinator Allison Goetsch at 312.227.6769.

Conditions We Treat