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Norrie Disease

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Norrie Disease 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

  • ND
  • NDP
  • Anderson-Warburg syndrome
  • atrophia bulborum hereditaria
  • episkopi blindness
  • fetal iritis syndrome
  • Norrie syndrome
  • Whitnall-Norman syndrome

Disorder Subdivisions

  • None

General Discussion

Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene.

All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop hearing (auditory) loss which is progressive of many years and some may exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mental retardation may occur in some cases.

Several disorders can occur due to mutation of the NDP gene including persistent hyperplastic primary vitreous (PHPV), X-linked familial exudative vitreoretinopathy (X-linked-FEVR), and some cases of retinopathy of prematurity (ROP) and Coats disease. These disorders represent a spectrum of disease associated with the NDP gene. Each of these disorders can also occur secondary to mutations in other genes.

Resources

Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Tel: (410)423-0600
Fax: (410)872-0574
Tel: (800)683-5555
TDD: (800)683-5551
Email: info@FightBlindness.org
Internet: http://www.blindness.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

Lighthouse International
111 E 59th St
New York, NY 10022-1202
Tel: (800)829-0500
Email: info@lighthouse.org
Internet: http://www.lighthouse.org

The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

Hearing Health Foundation
363 Seventh Avenue, 10th Floor
New York, NY 10016-3904
United States
Tel: (212)257-6140
Fax: (212)257-6139
Tel: (866)454-3924
TDD: (888)435-6104
Email: info@hearinghealthfoundation.org
Internet: http://hearinghealthfoundation.org/home

Retinitis Pigmentosa International
P.O. Box 900
Woodland Hills, CA 91365
Tel: (818)992-0500
Fax: (818)992-3265
Tel: (800)344-4877
Email: info@rpinternational.org
Internet: http://www.rpinternational.org

Norrie Disease Association
P.O. Box 3244
Munster, MA 46321
Tel: (708)620-4556
Email: joinnda@norries.org
Internet: http://www.norriedisease.org

National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@perkins.org
Internet: http://www.napvi.org

National Federation of the Blind
200 East Wells Street
at Jernigan Place
Baltimore, MD 21230
USA
Tel: (410)659-9314
Fax: (410)685-5653
Email: nfb@nfb.org
Internet: http://www.nfb.org

American Society for Deaf Children
800 Florida Avenue NE
2047
Washington, DC 20002-3695
Tel: (866)895-4206
Fax: (410)795-0965
Tel: (800)942-2732
Email: asdc@deafchildren.org
Internet: http://www.deafchildren.org

American Foundation for the Blind
2 Penn Plaza
Suite 1102
New York, NY 10121
Tel: (212)502-7600
Fax: (888)545-8331
Tel: (800)232-5463
TDD: (212)502-7662
Email: afbinfo@afb.net
Internet: http://www.afb.org

American Council of the Blind
2200 Wilson Boulevard
Suite 650
Arlington, VA 22201
Tel: (202)467-5081
Fax: (202)465-5085
Tel: (800)424-8666
Email: mailman@acb.org
Internet: http://www.acb.org/

National Association of the Deaf
8630 Fenton Street
Suite 820
Silver Springs, MD 20910
USA
Tel: (301)587-1788
Fax: (301)587-1791
TDD: (301)587-1789
Email: NADinfo@nad.org
Internet: http://www.nad.org

NIH/National Eye Institute
31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

Blind Children's Center
4120 Marathon Street
Los Angeles, CA 90029-3584
USA
Tel: (323)664-2153
Fax: (323)665-3828
Tel: (800)222-3566
Email: info@blindchildrenscenter.org
Internet: http://www.blindchildrenscenter.org

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: getinfo@madisonsfoundation.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: info@letthemhear.org
Internet: http://www.letthemhear.org

American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
Tel: (703)790-8466
Fax: (703)790-8631
Tel: (800)222-2336
Email: infoaud@audiology.org
Internet: http://www.audiology.org

Perkins School for the Blind
175 North Beacon Street
Watertown, MA 02472
Tel: (617)924-3434
Fax: (617)926-2027
Email: Info@Perkins.org
Internet: http://www.Perkins.org

National Consortium on Deaf-Blindness
The Teaching Research Institute
345 N. Monmouth Avenue
Monmouth, OR 97361
Tel: (800)438-9376
Fax: (503)838-8150
Tel: (800)438-9376
TDD: (800)854-7013
Email: info@nationaldb.org
Internet: http://www.nationaldb.org

Hearing Loss Association of America
7910 Woodmont Avenue
Suite 1200
Bethesda, MD 20814
Tel: (301)657-2248
Fax: (301)913-9413
Email: info@hearingloss.org
Internet: http://www.hearingloss.org

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".

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:  1/19/2012
Copyright  1988, 1989, 1994, 1996, 2001, 2008, 2012 National Organization for Rare Disorders, Inc.

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