Albinism


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Important

It is possible that the main title of the report 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.


Synonyms


  • Oculocutaneous Albinism
  • BADS
  • Albinismus
  • Congenital Achromia
  • Hypopigmentation

Disorder Subdivisions


  • Tyrosinase Positive Albinism (Type II)
  • Tyrosinase Negative Albinism (Type I)
  • Yellow Mutant Albinism
  • Chediak-Higashi Syndrome
  • Hermansky-Pudlak Syndrome
  • Cross' Syndrome
  • Brown Albinism
  • Autosomal Dominant Albinism
  • Rufous Albinism
  • Black Locks-Albinism-Deafness of Sensoneural Type (BADS)
  • Ocular Albinism
  • Nettleship Falls Syndrome (X-Linked)
  • Forsius-Eriksson Syndrome (X-Linked)
  • Aland Island Eye Disease (X-Linked)
  • AIED
  • Autosomal Recessive Forms of Ocular Albinism
  • Albinoidism

General Discussion


Albinism is a group of rare inherited disorders characterized by the absence at birth of color (pigmentation) in the skin, hair, and eyes. Albinism is also associated with certain syndromes that produce defects in the eyes (ocular abnormalities). The syndromes of this disorder are categorized as Tyrosinase-Negative Oculocutaneous Albinism, Tyrosinase- Positive Oculocutaneous Albinism (Albinoidism), and Ocular Albinism.


Resources


National Organization for Albinism and Hypopigmentation

PO Box 959

East Hempstead, NH 03826-0959

Tel: (603)887-2310

Fax: (603)887-6049

Tel: (800)473-2310

Email: info@albinism.org

Internet: http://www.albinism.org



March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Albinism Fellowship

P.O. Box 77

Burnley

Lancashire, Intl BB11 5GN

United Kingdom

Tel: 44 1282 771900

Email: info@albinism.org.uk

Internet: http://www.albinism.org.uk



NIH/National Institute of Child Health and Human Development

31 Center Dr

Building 31, Room 2A32

MSC2425

Bethesda, MD 20892

Tel: (301)496-5133

Fax: (301)496-7101

Internet: http://www.nih.gov/hichd/



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




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

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 orphan@rarediseases.org

Last Updated:   1/3/2007

Copyright   1985, 1989, 1992, 1994, 1999, 2007 National Organization for Rare Disorders, Inc.


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Last updated: January 03, 2007

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