Important It is possible that the main title of the report Albinism, Oculocutaneous 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.
tyrosinase-negative oculocutaneous albinism
oculocutaneous albinism type 1B
yellow oculocutaneous albinism
platinum oculocutaneous albinism
minimal pigment oculocutaneous albinism
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Oculocutaneous albinism is a group of rare inherited disorders characterized by a reduced amount or complete lack of melanin pigment in the skin, hair, and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment. Abnormal or insufficient melanin pigmentresults in vision abnormalities and light skin that is very susceptible to damage from the sun. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition.
National Organization for Albinism and Hypopigmentation PO Box 959 East Hempstead, NH 03826-0959 Tel: (603)887-2310 Fax: (800)648-2310 Tel: (800)473-2310 Email: firstname.lastname@example.org Internet: http://www.albinism.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
NIH/National Institute of Child Health and Human Development 31 Center Dr Building 31, Room 2A32 MSC2425 Bethesda, MD 20892 Fax: (866)760-5947 Tel: (800)370-2943 TDD: (888)320-6942 Email: NICHDInformationResourceCenter@mail.nih.gov Internet: http://www.nichd.nih.gov/
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: 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/
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".
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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: 7/29/2008 Copyright 1985, 1989, 1992, 1994, 1999, 2007, 2008 National Organization for Rare Disorders, Inc.
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