Neurofibromatosis Type 1 (NF1)
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Neurofibromatosis Type 1 (NF1) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- neurofibroma, multiple
- neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
- peripheral neurofibromatosis
- Recklinghausen's phakomatosis
- Von Recklinghausen's disease
- Von Recklinghausen's neurofibromatosis
Neurofibromatosis type 1 (NF1), also called von Recklinghausen's disease, is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin. Areas of abnormal pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk and other regions as well as freckling, particularly under the arms (axillary) and in the groin (inguinal) area. Such abnormalities of skin pigmentation are often evident by one year of age and tend to increase in size and number over time.
At birth or early childhood, affected individuals may have relatively large benign tumors that consist of bundles of nerves (plexiform neurofibromas). Individuals with NF1 may also develop benign tumor-like nodules of the colored regions of the eyes (Lisch nodules) or tumors of the optic nerves (second cranial nerves), which transmit nerve impulses from the innermost, nerve-rich membrane of the eyes (retinas) to the brain. More rarely, affected individuals may develop certain malignant (cancerous) tumors.
NF1 may also be characterized by unusual largeness of the head (macrocephaly) and relatively short stature. Additional abnormalities may also be present, such as episodes of uncontrolled electrical activity in the brain (seizures); learning disabilities; speech difficulties; abnormally increased activity (hyperactivity); and skeletal malformations, including progressive curvature of the spine (scoliosis), bowing of the lower legs, and improper development of certain bones. In individuals with NF1, associated symptoms and findings may vary greatly in range and severity from case to case. Most people with NF1 have normal intelligence but learning disabilities appear in about 50% of children with NF1.
NF1 is caused by changes (mutations) of a relatively large gene on the long arm (q) of chromosome 17 (17q11.2). The gene regulates the production of a protein known as neurofibromin, which is thought to function as a tumor suppressor. In about 50 percent of individuals with NF1, the disorder results from spontaneous (sporadic) mutations of the gene that occur for unknown reasons. In others with the disorder, NF1 is inherited as an autosomal dominant trait.
The name "neurofibromatosis" is sometimes used generally to describe NF1 as well as a second, distinct form of NF known as neurofibromatosis Type II (NF2). Also an autosomal dominant disorder, NF2 is primarily characterized by benign tumors of both acoustic nerves, leading to progressive hearing loss. The auditory nerves (eight cranial nerves) transmit nerve impulses from the inner ear to the brain.
Children's Tumor Foundation
95 Pine Street
New York, NY 10005-4002
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
213 S. Wheaton Ave.
Wheaton, IL 60187
Baylor College of Medicine
1 Baylor Plaza
6701 Fannin St., 16th Floor
Houston, TX 77030
Cedars-Sinai Medical Genetics Institute
8700 Beverly Blvd
PACT Suite 400
Los Angeles, CA 90048
Children's Hospital of Philadelphia
Attn. Elaine Zackai M.D.
34th Street and Civic Center Blvd.
Philadelphia, PA 19104
Children's National Medical Center
Attn: Kenneth Rosenbaum MD
111 Michigan Ave. NW
Washington, DC 20010
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Massachusetts General Hospital Neurofibromatosis Clinic
Neurofibromatosis Clinic ACC
15 Parkman St.
Boston, MA 02114
New England Consortium of Metabolic Programs
Children's Hospital Boston
1 Autumn Street, Room 525
Boston, MA 02115
Comer Children's Hospital - University of Chicago (Neurofibromatosis Clinic)
5721 S. Maryland Avenue, MC3055
Chicago, IL 60637
BC Neurofibromatosis Foundation
Victoria, BC, Intl V8R 6S4
Tel: 800-385-BCNF (2263)
Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Alberta Neurofibromatosis Association
636 Hunterfield Place NW
Alberta, T2K 4L6
Email: firstname.lastname@example.org or email@example.com
American Association of Neurological Surgeons
5550 Meadowbrook Drive
Rolling Meadows, IL 60008-3852
Internet: http://www.NeurosurgeryToday.org and http://www.aans.org
American Society of Clinical Oncology
2318 Mill Road
Alexandria, VA 22314
Medical Home Portal
Dept. of Pediatrics
University of Utah
P.O. Box 581289
Salt Lake City, UT 84158
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 2/3/2008
Copyright 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993, 1994, 1995, 1996, 1997, 1998, 1999, 2000, 2002, 2005 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.