Neurofibromatosis Type 1 (NF1)

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • neurofibroma, multiple
  • neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
  • peripheral neurofibromatosis
  • Recklinghausen's phakomatosis
  • Von Recklinghausen's disease
  • Von Recklinghausen's neurofibromatosis
  • NF1

Disorder Subdivisions

  • segmental neurofibromatosis

General Discussion

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.
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Resources

Children's Tumor Foundation: Ending Neurofibromatosis Through Research
95 Pine Street
16th Floor
New York, NY 10005
Tel: (212)344-6633
Fax: (212)747-0004
Tel: (800)323-7938
TDD: (212)344-6633
Email: info@ctf.org
Internet: http://www.nf.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Neurofibromatosis, Inc.
P.O. Box 66884
Chicago, IL 60666
USA
Tel: (630)627-1115
Fax: (630)627-1117
Tel: (800)942-6825
Email: kbischoff@nfinc.org
Internet: http://www.nfinc.org

Baylor College of Medicine Neurofibromatosis Clinic
Neurofibromatosis Clinic
1 Baylor Plaza
Houston, TX 77030
Tel: (713)799-6103

Cedars-Sinai Medical Genetics-Birth Defects Center
Medical Genetics
444 S. San Vincente Blvd
Suite 1001
Los Angeles, CA 90048
USA
Tel: (310)423-9914
Fax: (310)423-9939
Internet: http://www.cedars-sinai.edu/genetics

Children's Hospital Fibromatosis Clinic (Philadelphia)
Neurofibromatosis Clinic
Attn. Elaine Zackai M.D.
34th Street and Civic Center Blvd.
Room 9028
Philadelphia, PA 19104
Tel: (215)590-2920
Tel: (800)879-2467
Internet: http://www.chop.edu/healthinfo/fibromatosis-and-desmoid-tumors.html

Children's National Medical Center
111 Michigan Ave. NW
Washington, DC 20010
Tel: (202)476-2327
Tel: (888)884-2327
Email: tbear@cnmc.org
Internet: http://www.childrensnational.org/

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Massachusetts General Hospital Neurofibromatosis Clinic
55 Fruit Street
Gray 502
Boston, MA 02114
USA
Tel: (617)724-7856
Fax: (617)724-8769
Email: SPlotkin@partners.org
Internet: http://neurosurgery.mgh.harvard.edu/NFclinic/

Boston Children's Hospital
Genetics Program
300 Longwood Avenue
Boston, MA 02115
USA
Tel: (617)735-6394

University of Chicago Neurofibromatosis Clinic
5839 South Maryland Avenue
MC 3055
Chicago, IL 60637
USA
Tel: (773)203-2344
Fax: (773)702-4786
Email: tonsgard@midway.uchicago.edu

BC Neurofibromatosis Foundation
203-1001 Cloverdale
Victoria, BC, Intl V8X 4C9
Canada
Tel: 205-370-7597
Fax: 205-370-7598
Tel: 800-385-BCNF (2263)
TDD: 999-999-9999
Email: bcnf@bcnf.bc.ca
Internet: http://www.bcnf.bc.ca

Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614
USA
Tel: (520)625-5495
Fax: (615)526-4921
Email: sharon.lane@rare-cancer.org
Internet: http://www.rare-cancer.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Alberta Neurofibromatosis Association
636 Hunterfield Place NW
Rocky Mountain House
Calgary, Alberta
T2K 4L6
Canada
Tel: 403-722-3389
Tel: 866-939-2263
Email: pam@albertanf.org or cathy@albertanf.org
Internet: http://www.albertanf.org

American Association of Neurological Surgeons
5550 Meadowbrook Drive
Rolling Meadows, IL 60008-3852
Tel: (847)378-0500
Fax: (847)378-0600
Tel: (888)566-2267
Email: info@aans.org
Internet: http://www.NeurosurgeryToday.org and http://www.aans.org

Cancer.Net
American Society of Clinical Oncology
2318 Mill Road
Suite 800
Alexandria, VA 22314
Tel: (571)483-1780
Fax: (571)366-9537
Tel: (888)651-3038
Email: contactus@cancer.net
Internet: http://www.cancer.net/patient

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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