Multidisciplinary Neurofibromatosis Program Overview

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

If your child has been diagnosed with neurofibromatosis, you probably have many questions about what it is and what comes next. Neurofibromatosis, commonly called NF, is a genetic disorder. There are two forms of NF (NF1 and NF2), and it’s important to know that they act and are treated very differently. Our team of NF specialists at Boston Children’s Hospital has special expertise in treating children with both types of NF.

Our expertise at Boston Children's

Our Multidisciplinary Neurofibromatosis team at Boston Children's Hospital offers comprehensive diagnostic evaluations, follow-up care and genetic counseling for individuals with known or suspected NF.

  • Our core team includes three geneticists, a neurologist and a genetic counselor who have extensive experience treating children and families with NF.

  • Pediatric specialists from many different medical areas, including ophthalmology, endocrinology, and surgery, among many others, all of whom are familiar with the implications of NF in their area of expertise, join a child’s team as needed.

  • We offer unique clinical trials and treatment approaches through national research collaborations as well as studies we develop in our own research programs.

  • In addition to providing medical care, we support the patient and family’s emotional well-being by providing psychosocial support and educational materials.

What is Neurofibromatosis?


Neurofibromatosis (NF) is a genetic condition. There are two types of NF:

  • NF1
  • NF2

A very rare, but related, condition is called schwannomatosis. Patients with schwannomatosis are also treated through the Multidisciplinary Neurofibromatosis Program at Boston Children's.

Our Services

Our Multidisciplinary Neurofibromatosis (NF) team at Boston Children’s Hospital offers comprehensive diagnostic evaluations, follow-up care and genetic counseling for individuals with known or suspected NF.

  • Comprehensive evaluations include a physical exam as well review of pregnancy, medical, developmental and family histories, to confirm or establish the correct diagnosis.
  • Genetic consultations with our genetic counselor explain the genetic and hereditary implications of NF for affected individuals and family members.
  • Long-term follow-up care is managed through at least one annual visit to the program. If patients or families have questions between visits, we welcome them to speak with our clinic coordinator or schedule additional appointments.

For children requiring additional evaluations, we offer direct specialty referral to renowned pediatric specialists at Boston Children’s with expertise in NF from areas including:

  • Opthalmology
  • Endocrinology                                  
  • Orthopedics                                                   
  • Developmental Pediatrics                               
  • Neuropsychology
  • Neurosurgery                                               
  • Neuro-Oncology/Medical Oncology/Radiation Oncology                                    
  • Plastic Surgery                                          
  • General Surgery                                       
  • Audiology and Otolaryngology                           
  • Dermatology                                                                    
  • Cardiology

  • We support and educate patients and families by giving them materials discussing the natural history and related medical issues of NF to take home. And, we maintain close relationships with the Children's Tumor Foundation and Neurofibromatosis, Inc., both of which can provide information and support to families.

Our Treatment Approach

Neurofibromatosis (NF) is an unpredictable disorder. Many people with NF1 don’t have any major medical, developmental or cosmetic issues. Others will face medical or developmental problems at some point in their life. Since we are unable to determine who may have an issue, what it may be, or when it may occur, we recommend close follow-up and evaluation of any problem as it occurs. This includes, at a minimum, a yearly evaluation in our program, as well as a yearly ophthalmologic evaluation.

Your child’s care will be overseen by a geneticist or pediatric neurologist at Boston Children's Hospital. If necessary, your child will have specialty consultations with pediatric doctors familiar with the implications of NF in the fields of:

  • Ophthalmology
  • Endocrinology                                   
  • Orthopedics                                                   
  • Developmental Pediatrics                              
  • Neuropsychology
  • Neurosurgery                                               
  • Neuro-Oncology/Medical Oncology/Radiation Oncology                                    
  • Plastic Surgery                                          
  • General Surgery                                       
  • Audiology and Otolaryngology                           
  • Dermatology                                                                     
  • Cardiology

If you have questions between your annual visits, you can always reach our Scheduling Coordinator at 857-218-4018 or our Clinic Coordinator/Genetic Counselor at 617-355-4699. Additional appointments will be scheduled as necessary.


Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

Patient Information
Date of Birth:
Contact Information
Appointment Details
Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
Please complete all required fields

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

Thank you.

Your request has been successfully submitted

You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
Find a Doctor
Search by Clinician's Last Name or Specialty:
Select by Location:
Search by First Letter of Clinician's Last Name: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
Condition & Treatments
Search for a Condition or Treatment:
View allSearch
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO