Neurofibromatosis Type 1 (FAQ)

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 that can cause tumors to form on the nerves anywhere in the body at any time. This can cause tumors to form on the nerves anywhere in the body at any time and can result in a variety of medical problems, mostly affecting the skin and nervous systems. NF1 is a progressive disorder. It affects all races, 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). It is an autosomal dominant genetic condition (comes from 1 parent). It is not contagious. Approximately 50% of those with NF1 have a family history of NF1. The other 50% of cases result from spontaneous genetic mutations, which are not due to anything the parents..Typically, if an individual does not have NF1, they cannot pass it on to their children. The NF-1 gene is located on chromosome 17.

What are the symptoms of NF1?

NF1 can have many symptoms, affect many organs, and be very different from person to person, even within families. 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?

The “coffee-with-milk” (Café-au-lait) spots are the hallmark finding of NF1 and one of the diagnostic criteria. Diagnosis of NF1 requires 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 (the shoulder joint where the arm connects to the shoulder) 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)
  • A first-degree relative with NF1

What is the prognosis?

Most people with NF1 do not have major medical problems and can complete schooling of various levels, hold jobs, and live independently. However, a few individuals have serious problems that are difficult to treat and require medical attention. 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 if the other parent did not have NF1.

What treatments/therapies/medications are recommended or available?

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

How will my child and our family be impacted?

The impact on the family depends on how severe MPS1 presents. 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 learning impairments that could affect their education and ability to support themselves financially.

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)

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* 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.

Authors & Reviewers

Initial publication: March 2012; last update/revision: May 2024
Current Authors and Reviewers:
Author: Eliza Briscoe, MD
Funding: The Medical Home Portal thanks the 2011-2012 URLEND Medical Home Portal trainees group for their contribution to this page.
Authoring history
2012: revision: David A. Stevenson, MDR
2012: first version: Medical Home TeamA
AAuthor; CAContributing Author; SASenior Author; RReviewer