Neurofibromatosis Program

The CHOC Neurofibromatosis Program has been treating neurofibromatosis for more than 30 years and offers specialists in every area needed to treat this condition. With experts in genetics, neurology, neurosurgery, oncology, ophthalmology and orthopaedics, we provide comprehensive care and diagnostic testing to more than 150 children a year.

We care for children with neurofibromatosis 1, which is the most common form, and neurofibromatosis 2, as well as other related rare conditions. Starting when a child first shows symptoms, we follow them regularly until a genetic diagnosis can be made around age 7. Appointments are typically held every six months until age 3, and then every year or as often as the child needs. We continually monitor a child to ensure they are meeting developmental milestones and to identify any issues that may arise. Most children with this condition live very healthy, normal lives.

Children's Tumor Foundation logo - Ending NF through Research

Our program is the only one in Orange County and San Diego County to be named a member of the Neurofibromatosis Clinic Network with the Children’s Tumor Foundation.

What is Neurofibromatosis 1?

Neurofibromatosis type 1 (NF1) is a common genetic disorder that can affect the skin, brain and eyes. It occurs in about one in 3,000 to 4,000 births in the U.S. It is sometimes called Von Recklinghausen’s disease. The most common symptom of NF1 is birthmarks, and most children show this symptom only with no other problems.

What causes neurofibromatosis 1?

NF1 is an autosomal dominant condition caused by a mutation in the NF1 gene on chromosome 17, which can be inherited from a parent with the disease, or occur spontaneously. The condition is inherited from a parent in about 50 percent of cases. A parent with NF1 has a 50 percent chance of passing on the genetic mutation and disease to each child. Males and females are equally affected, regardless of how the disease occurs.

What are the symptoms of neurofibromatosis 1?

The classic symptom of NF1 is light brown patches of pigment on the skin, called cafe-au-lait spots. If a child has three or more of these spots, we recommend having a consultation with a genetic specialist to evaluate for the possibility of NF1. Other symptoms include freckling in areas of the body that are not exposed to sun, like under the arms and the groin. Lisch nodules, which are small bumps on the iris (colored part of the eye), may appear around adolescence, but usually do not cause problems. There are specific diagnostic criteria for NF1, which the geneticist will discuss with you at the time of your visit.

In very rare cases, children with NF1 may have skin tumors called neurofibromas, which can be found growing on the nerves and in various organs of the child’s body. Brain tumors may occur in patients with NF1, though this is also rare.

If a child has any of these complex symptoms, CHOC uses a team approach, with specialists in multiple areas to address all of their needs.

How is neurofibromatosis 1 diagnosed?

NF1 is congenital (present at birth). The diagnosis can be made with a physical exam when the child is young. During the visit, the genetics doctor obtains a complete prenatal and birth history of the child as well as a family history. There is genetic testing available for NF1, however this is a diagnosis that can typically be made clinically by the time a child is 5 years of age. Therefore genetic testing may not be necessary and is determined on a case-by-case basis.

How is neurofibromatosis 1 managed?

Since NF1 is a lifelong condition, the focus is on medically managing the symptoms. A child is best managed by a multidisciplinary team like CHOC’s that includes the following health care providers:

  • Genetic specialist
  • Neurologist
  • Neurosurgeon
  • Orthopaedic surgeon
  • Ophthalmologist
  • Oncologist
  • Nurse
  • Rehabilitation team (physical, occupational, speech therapy, audiology).

The CHOC Neurofibromatosis Program is designed to follow a child regularly and comprehensively, to manage NF1 in any way needed.

NF1 patient benefits from multidisciplinary expertise of care team

Jax smiling with blonde pigtails wearing pink coat in front of mountain scenery

Neurofibromatosis type 1 (NF1) occurs in about one in every 3,000 children. While most of these children do very well and do not develop issues, some cases will require care from a team of specialists. In about 1% of NF1 cases, the condition can lead to tumors. Jax, a CHOC patient, underwent chemotherapy due to rare eye tumors caused by NF1. Read more about her NF journey and her multidisciplinary care team led by geneticist Dr. Neda Zadeh.

What are the Other Types of Neurofibromatosis?

Neurofibromatosis type 2 (NF2)

Neurofibromatosis 2 (NF2) is more rare than NF1 and causes tumors known as schwannomas to grow on a vestibular nerve branch. These are known as bilateral vestibular schwannomas (BVS). Other symptoms include tinnitus, hearing loss and balance problems. The average age of onset is 18 to 24 years, but it is possible for younger children to develop it. CHOC experts care for kids of all ages with NF2.

Schwannomatosis

This type of neurofibromatosis is rarer than NF1 and NF2. It causes schwannomas, or benign nerve tumors, to grow through the body without the other symptoms of NF1 or NF2. The main symptom is intense pain that occurs when a schwannoma grows larger or presses on a nerve or nearby tissue. Other symptoms may include numbness, tingling or weakness in the fingers and toes.

Make an Appointment

To make an appointment with the CHOC Neurofibromatosis Program, please call us at 714-288-3500.

Appointments are held at the CHOC Clinic with our geneticists, as well as other members of our neurofibromatosis team as needed.

CHOC Clinic
1201 W. La Veta Ave.
Orange, CA 92868
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Meet the Team

Dr. Neda Zadeh, Genetics
Dr. Touran Zadeh, Genetics
Dr. Afshin Aminian, Orthopaedics
Dr. Amirhossein Misaghi, Orthopaedics
Dr. Sharief Taraman, Neurology
Dr. Donald Phillips, Neurology
Dr. Maija-Riikka Steenari, Neurology
Dr. Carol Lin, Hematology/Oncology
Dr. Chenue Abongwa, Hematology/Oncology
Dr. Michael Muhonen, Neurosurgery
Dr. Joffre Olaya, Neurosurgery
Dr. William Loudon, Neurosurgery