Cataract Dental Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Cataract Dental Syndrome 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

  • Nance-Horan Syndrome
  • NHS
  • Cataract, X-Linked, with Hutchinsonian Teeth
  • Mesiodens-Cataract Syndrome

Disorder Subdivisions

  • None

General Discussion

Cataract-Dental Syndrome is an extremely rare genetic disorder that may be evident at birth (congenital). It is primarily characterized by abnormalities of the teeth and clouding of the lens of the eyes (congenital cataracts), resulting in poor vision. Additional eye (ocular) abnormalities are also often present, such as unusual smallness of the front, clear portion of the eye through which light passes (microcornea) and involuntary, rapid, rhythmic eye movements (nystagmus). In some cases, the disorder may also be associated with additional physical abnormalities and/or mental retardation. The range and severity of symptoms may vary greatly from case to case, including among affected members of the same family.

Cataract-Dental Syndrome is inherited as an X-linked recessive trait; therefore, it is usually fully expressed in males only. However, females who carry a single copy of the disease gene (heterozygotes) may manifest some of the symptoms and findings associated with the disorder. These may include microcornea and/or clouding of the lens of the eyes (posterior sutural cataract). Symptoms are usually less severe than those of affected males, potentially causing only slightly decreased clearness or clarity of vision (visual acuity). In some cases, abnormalities of the teeth may also be present.
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Resources

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
Email: staff@navh.org
Internet: http://www.navh.org

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02472
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 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/

NIH/National Eye Institute
Building 31 Rm 6A32
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/

NIH/National Institute of Dental and Craniofacial Research
Tel: (301)496-4261
Fax: (301)496-9988
Email: nidcr@nih.gov
Internet: http://www.nidcr.nih.gov/

Stopfer, Jill, M.S.
Intl. Children's Anophthalmia Ntwk.
Developmental Medicine/Genetics
Albert Einstein Medical Ctr.
5501 Old York Rd.
Philadelphia, PA 19141
Tel: (215)456-8722
Tel: (800)580-4226

Institute for Families
4650 Sunset Blvd, Mail Stop 111
Los Angeles, CA 90027
USA
Tel: (323)361-4649
Fax: (323)665-7869
Email: info@instituteforfamilies.org
Internet: http://www.instituteforfamilies.org

Anophthalmia/Microphthalmia Registry
C/O Genetics
Albert Einstein Medical Center, Levy 2 West
5501 Old York Rd
Philadelphia, PA 19141
Tel: (215)456-8722
Fax: (215)456-2356
Email: schneida@einstein.edu
Internet: http://www.angelfire.com/mi/microphthalmia/icanqa.html

Vision World Wide, Inc.
5707 Brockton Drive
#302
Indianapolis, IN 46220-5481
Tel: (317)254-1332
Fax: (317)251-6588
Email: visionworldwide@yahoo.com
Internet: http://www.visionww.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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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