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 3, 2007

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