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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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