Cataract Dental Syndrome / Disease

Diseases & Conditions

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Cataract Dental Syndrome

Synonyms of Cataract Dental Syndrome

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

Disorder Subdivisions

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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Organizations related to Cataract Dental Syndrome

Anophthalmia/Microphthalmia Registry
C/O Genetics
Philadelphia PA 19141
Phone #: 215-456-8722
800 #: --
e-mail: [email protected]
Home page: http://www.angelfire.com/mi/microphthalmia/icanqa.html
Council of Families with Visual Impairment
1155 15th St. NW
Washington DC 20005
Phone #: 202-465-5081
800 #: --
e-mail: [email protected]
Home page: http://www.acb.org/
Institute for Families
P.O. Box 54700
Los Angeles CA 90054-0700
Phone #: 323-669-4649
800 #: --
e-mail: [email protected]
Home page: http://www.instituteforfamilies.org
NIH/National Eye Institute
Building 31 Rm 6A32
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: [email protected]
Home page: http://www.nei.nih.gov/
NIH/National Institute of Dental and Craniofacial Research
None
None None None
Phone #: 301-496-4261
800 #: --
e-mail: [email protected]
Home page: http://www.nidcr.nih.gov/
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown MA 02472
Phone #: 617-972-7441
800 #: 800-562-6265
e-mail: [email protected]
Home page: http://www.napvi.org
National Association for Visually Handicapped
22 West 21st Street
New York NY 10010
Phone #: 212-889-3141
800 #: --
e-mail: [email protected]
Home page: http://www.navh.org
National Federation of the Blind
1800 Johnson Street
Baltimore MD 21230
Phone #: 410-659-9314
800 #: --
e-mail: [email protected]
Home page: http://www.nfb.org
Stopfer, Jill, M.S.
Intl. Children's Anophthalmia Ntwk.
Philadelphia PA 19141
Phone #: 215-456-8722
800 #: 800-580-4226
e-mail: N/A
Home page: N/A
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: [email protected]
Home page: http://www.thearc.org/
Vision World Wide, Inc.
5707 Brockton Drive
Indianapolis IN 46220-5481
Phone #: 317-254-1332
800 #: N/A
e-mail: [email protected]
Home page: http://www.visionww.org

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