Important It is possible that the main title of the report Oculocutaneous Albinism 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.
brown oculocutaneous albinism
minimal pigment oculocutaneous albinism
oculocutaneous albinism type 1B
platinum oculocutaneous albinism
rufous oculocutaneous albinism
temperature-sensitive oculocutaneous albinism
tyrosinase-negative oculocutaneous albinism
yellow oculocutaneous albinism
oculocutaneous albinism type 1A
oculocutaneous albinism type 1B
oculocutaneous albinism type 2
oculocutaneous albinism type 3
oculocutaneous albinism type 4
Oculocutaneous albinism (OCA) 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 in specialized cells called melanocytes. Absent or insufficient melanin pigment results abnormal development in the eyes resulting in vision abnormalities and light skin that is very susceptible to damage from the sun including skin cancer. 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/
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/
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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.
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Last Updated: 5/25/2012 Copyright 1985, 1989, 1992, 1994, 1999, 2007, 2008, 2012 National Organization for Rare Disorders, Inc.
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