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.
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 16th Floor New York, NY 10005-4002 Tel: (212)344-6633 Fax: (212)747-0004 Tel: (800)323-7938 TDD: (212)344-6633 Email: email@example.com Internet: http://www.ctf.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. 213 S. Wheaton Ave. Wheaton, IL 60187 USA Tel: (630)510-1115 Fax: (630)510-8508 Tel: (800)942-6825 Email: firstname.lastname@example.org Internet: http://www.nfnetwork.org
Cedars-Sinai Medical Genetics Institute 8700 Beverly Blvd PACT Suite 400 Los Angeles, CA 90048 USA Tel: (310)423-9914 Fax: (310)423-2080 Tel: (800)233-2771 Internet: http://www.cedars-sinai.edu/Patients/Programs-and-Services/Medical-Genetics-Institute/
Neurofibromatosis Clinic The Children's Hospital of Philadelphia 34th Street and Civic Center Boulevard Room 9028 Philadelphia, PA 19104 Tel: (215)590-2920 Tel: (800)879-2467 Internet: http://www.chop.edu/healthinfo/fibromatosis-and-desmoid-tumors.html or http://www.chop.edu/service/neurofibromatosis/home.html
Children's National Medical Center Genetics Department Attn: Kenneth Rosenbaum MD 111 Michigan Ave. NW Suite 1950 Washington, DC 20010 Tel: (202)476-2327 Tel: (888)884-2327 Email: email@example.com Internet: http://www.childrensnational.org/
NIH/National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Internet: http://www.ninds.nih.gov/
Massachusetts General Hospital Neurofibromatosis Clinic 15 Parkman St. 8th Floor, Room 835 Boston, MA 02114 USA Tel: (617)724-7856 Fax: (617)724-8769 Email: SPlotkin@partners.org Internet: http://neurosurgery.mgh.harvard.edu/NFclinic/
New England Consortium of Metabolic Programs Children's Hospital Boston 1 Autumn Street, Room 525 Boston, MA 02115 USA Tel: (617)355-7346 Fax: (617)730-0907 Email: firstname.lastname@example.org_ Internet: http://www.newenglandconsortium.org
Comer Children's Hospital - University of Chicago (Neurofibromatosis Clinic) Pediatric Neurology 5721 S. Maryland Avenue, MC3055 Chicago, IL 60637 USA Tel: (773)834-8064 Fax: (773)702-4786 Email: email@example.com Internet: http://www.uchicagokidshospital.org/specialties/neurology/patient-guides/neurofibromatosis/
BC Neurofibromatosis Foundation Box 5339 Victoria, BC, V8R 6S4 Canada Tel: 800385BCNF (2263) Email: firstname.lastname@example.org Internet: http://www.bcnf.bc.ca
Rare Cancer Alliance 1649 North Pacana Way Green Valley, AZ 85614 USA Internet: http://www.rare-cancer.org
MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Email: email@example.com Internet: http://www.netnet.net/mums/
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 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
Let Them Hear Foundation 1900 University Avenue, Suite 101 East Palo Alto, CA 94303 Tel: (650)462-3174 Fax: (650)462-3144 Email: email@example.com Internet: http://www.letthemhear.org
Alberta Neurofibromatosis Association 636 Hunterfield Place NW Calgary Alberta, T2K 4L6 Canada Tel: 4032754894 Tel: 8669392263 Email: firstname.lastname@example.org or email@example.com Internet: http://www.albertanf.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: firstname.lastname@example.org Internet: http://www.cancer.net/
Medical Home Portal Dept. of Pediatrics University of Utah P.O. Box 581289 Salt Lake City, UT 84158 Tel: (801)587-9978 Fax: (801)581-3899 Email: email@example.com Internet: http://www.medicalhomeportal.org
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