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The Neurofibromatosis Diagnostic and Treatment Program

The Neurofibromatosis Diagnostic and Treatment Program at St. Joseph’s Children’s Hospital provides care through implementation of current consensus clinical care guidelines. This program at St. Joseph’s Children’s Hospital is a Children's Tumor Foundation (CTF) affiliate clinic.

What is Neurofibromatosis?

Neurofibromatosis encompasses a set of distinct genetic disorders that can cause tumors of the nervous system. It can also affect the development of non-nervous tissues such as bones and skin. Neurofibromatosis (NF) has been classified into three distinct types: NF1, NF2 and Schwannomatosis.

Neurofibromatosis 1 (NF1)

Neurofibromatosis 1 (NF1) is the most common type of neurofibromatosis. NF1 occurs in one of every 2,500 births. It is characterized by the appearance of multiple cafe-au-lait spots and benign growths known as neurofibromas on or under the skin. Occasionally, tumors may develop on the cranial nerves, optic nerves or on the spinal cord. Changes in the bones, such as scoliosis may also occur.

Neurofibromatosis 2 (NF2)

Neurofibromatosis 2 (NF2) occurs in one of every 25,000 births. NF2 is characterized by tumors on the cranial and spinal nerves, as well as other changes in the brain and spinal cord. Tumors affecting the auditory nerves are the hallmark. Hearing loss, beginning in the teens or early twenties, is generally the first symptom.


Schwannomatosis is a rare form of NF that has only recently been recognized and appears to affect one in every 40,000 individuals. It is less well understood and features may vary greatly between patients. The most common tumor associated with NF2 is the schwannoma, however individuals with schwannomatosis have schwannomas without the other hallmark features of NF2. A schwannoma is a tumor made of Schwann cells, which are specific types of cells that help separate and insulate nerve cells.

The NF Diagnostic and Treatment Program at St. Joseph’s

Treatment of the complex medical issues in patients with neurofibromatosis is challenging. Meeting the needs of people with these complex conditions requires the care and expertise of dedicated medical professionals who can work together, providing ongoing assessments of patients as they grow from childhood through adulthood. It is important to closely monitor each individual for the potential complications associated with these conditions.

Through a team approach the program offers optimal care to individuals and families affected by NF. In addition, patients and their families have the chance to meet other people with this condition in order to gain social and emotional support.

The program provides multidisciplinary outpatient care for children and adults with neurofibromatosis. The program offers the services of:

  • Geneticists
  • Ophthalmologists
  • Developmental pediatricians
  • Neurologists
  • Orthopedists
  • Audiologists
  • Other necessary healthcare professionals

Services provided by the NF Center include:

  • Confirmation of diagnosis
  • Ongoing physical assessments
  • Ophthalmologic evaluations
  • Developmental assessments
  • Neurological assessments
  • Hearing evaluations
  • Orthopedic screening
  • Genetic consultation and testing
  • Genetic counseling
  • Patient and family education and support
  • Contact Us

For further information about the Neurofibromatosis Diagnostic and Treatment Program at St. Joseph’s University Medical Center, please call 973.754.2727.


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