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Neurofibromatosis Type 1

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Answers to questions families often have about caring for their child with neurofibromatosis type 1

What is Neurofibromatosis type 1 and what causes it?

boy with neurofibromatosis type 1 with very short hair, outside, smiling
Neurofibromatosis type 1 (NF1) is a genetic disorder of the nervous system which can cause tumors to form on the nerves anywhere in the body at any time resulting in a variety of medical problems, primarily affecting the skin and nervous systems. This progressive disorder affects all races, all ethnic groups and both sexes equally. NF1 is one of the most common genetic disorders in the United States (approximately 1 in every 2,500 to 3,000 births).
NF1 is an autosomal dominant genetic condition; it is not contagious. Approximately 50% of those affected with Neurofibromatosis NF1 have a prior family history of NF1. The other 50% of cases are the result of spontaneous genetic mutations, which was not due to anything the parents did before or during the pregnancy. Typically if an individual does not have NF1, he or she can not pass it on to his or her children. The NF-1 gene is located on chromosome 17.

What are the symptoms of NF1?

NF1 can cause a variety of symptoms affecting multiple organ systems. The condition can be very different from person to person even within families. The “coffee-with-milk” (Café-au-lait) spots are the hallmark finding of NF1 and as mentioned above are one of the diagnostic criteria. In addition to the diagnostic criteria mentioned above, other symptoms may include:
  • Learning disabilities
  • Large head
  • Short stature
  • Scoliosis
  • Decreased bone mineral density
  • High blood pressure
  • Pain
  • Rare malignant tumors (e.g., malignant peripheral nerve sheath tumors, rhabdomyosarcoma, juvenile myelomonocytic leukemia)
  • Cerebrovascular abnormalities (problems with blood vessels that can lead to stroke)

How is it diagnosed?

Diagnostic criteria for NF require 2 or more of the following:
  • Six or more Café-au-lait spots 1.5 cm or larger in post-pubertal individuals, 0.5 cm or larger in pre-pubertal individuals
  • Two or more neurofibromas of any type (benign tumors of primarily the nerves mostly observed on the skin) or 1 or more plexiform neurofibroma (larger and more diffuse)
  • Freckling in the axilla or groin
  • Optic glioma (tumor of the optic pathway that can lead to visual loss)
  • Two or more Lisch nodules (benign iris hamartomas)
  • A distinctive bony lesion; e.g., anterolateral bowing of the leg that fractures and does not heal, and dysplasia of a skull bone (sphenoid wing)
  • A first-degree relative with NF1

What is the prognosis?

The majority of individuals with NF1 do not have major medical problems. A small portion of individuals will have serious problems that can be difficult to treat but will require medical treatment. Even within families, different family members can have different symptoms. The vast majority of individuals with NF1 can complete schooling of various levels, hold jobs, and live independently. Significant cognitive impairment is not common.

What is the risk for other family members or future babies?

NF1 is an autosomal dominant condition. This means that an individual with NF1 would have a 50% chance of having a child with NF1 for each pregnancy.

What treatments/therapies/medications are recommended or available?

There is no known cure for NF1, although the gene for NF1 has been identified. However, there are treatments for many of the manifestations of NF1.

How will my child and our family be impacted?

The variability of prognosis is reflected in the impact on the family. Most children with NF1 will have no significant medical problems and can be expected to transition easily into adulthood and independence. Some children will have complications requiring surgery or medical treatments and some will have impairments in learning that could affect their educational attainment and ability to support themselves financially.

Did the "Elephant Man" have NF1?

No. This is a common misconception. Joseph Merrick, referred to as the "Elephant Man," was initially thought to have a severe presentation of NF1. Experts now think that he had an entirely different condition called Proteus syndrome, which involves massive overgrowth and hypertrophy, hyperostoses, and lipomas.

Resources

Information & Support

Related Portal Content
Neurofibromatosis Type 1
Assessment and management information for the primary care clinician caring for the child with neurofibromatosis type 1 (NF1).
Care Notebook
Medical information in one place with fillable templates to help both families and providers. Choose only the pages needed to keep track of the current health care summary, care team, care plan, health coverage, expenses, scheduling, and legal documents. Available in English and Spanish.

For Parents and Patients

Neurofibromatosis (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

Neurofibromatosis Type 1 (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

Understanding NF1 (Harvard University)
A medical resource about NF1 for parents, patients, and providers from the Harvard Medical School Center for Neurofibromatosis and Allied Disorders; offers several frequently asked questions and their answers. Login required to view article.

Neurofibromatosis Information Page (NINDS)
Overview of NF1 from the National Institute of Neurological Disorders and Stroke; includes information and links related to research in NF.

Services for Patients & Families Nationwide (NW)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Helpful Articles

PubMed search for articles on Neurofibromatosis Type 1 in children for the last 3 years

Payne JM, Moharir MD, Webster R, North KN.
Brain structure and function in neurofibromatosis type 1: current concepts and future directions.
J Neurol Neurosurg Psychiatry. 2010;81(3):304-9. PubMed abstract

Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA.
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
Am J Med Genet A. 2009;149A(10):2327-38. PubMed abstract

Friedman JM, Birch PH.
Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.
Am J Med Genet. 1997;70(2):138-143. PubMed abstract
A large case series utilizing an international database; authors are international authorities on clinical aspects of NF1. Excellent review, focused on clinical characteristics and natural history.

McKusick VA, Kelly J, Bellus GA, et al.
Neurofibromatosis, Type 1; NF1.
(2004) http://omim.org/entry/162200. In: Online Mendelian Inheritance in Man (OMIM). Copyright 1966-2004 Johns Hopkins University. Accessed on 1/22/2019.
Extensive review of clinical and biochemical features, inheritance, cytogenetics, mapping, molecular genetics, diagnosis, population genetics, history, and allelic variants.

Szudek J, Birch P, Friedman JM.
Growth charts for young children with neurofibromatosis 1 (NF1).
Am J Med Genet. 2000;92(3):224-8. PubMed abstract
Contains growth charts specific for NF1.

Authors & Reviewers

Initial publication: March 2012; last update/revision: October 2015
Current Authors and Reviewers:
Author: Medical Home Team
Reviewer: David A. Stevenson, MD
Funding: The Medical Home Portal thanks the 2011-2012 URLEND Medical Home Portal trainees group for their contribution to this page.