- What is Neurofibromatosis type 1 and what causes it?
- What are the symptoms of NF1?
- How is it diagnosed?
- What is the prognosis?
- What is the risk for other family members or future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- Did the "Elephant Man" have NF1?
- Learning disabilities
- Large head
- Short stature
- Decreased bone mineral density
- High blood pressure
- 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)
- 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
NF, Inc. is a national organization whose mission is to create a community of support for those affected by NF through education, advocacy, coalitions, raising public awareness, and supporting research for treatments and a cure; sponsor a limited number of local groups.
Children's Tumor Foundation
The Children’s Tumor Foundation (CTF) is a non-profit medical foundation dedicated to improving the health and well-being of individuals and families affected by the neurofibromatoses. Look under "How You Can Help" to find a local chapter. The CTF sponsors an annual summer camp for children with NF.
Neurofibromatosis type 1 (Genetic Science Learning Center)
From a science and health education program at the University of Utah that provides educational materials and programs; this page focuses on the genetics of NF1.
From the National Library of Medicine and National Institutes of Health.
Neurofibromatosis Type 1 (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. 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.
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.
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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
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. Home page at <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM" target="_blank">http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM</a>. Accessed on 8/15/2004.
Extensive review including: 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.
|Reviewing Author:||David A. Stevenson, MD - 3/2012|
|Compiled and edited by:||URLEND Trainees, 2011-2012 - 1/2012|
|Content Last Updated:||10/2015|