Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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: schneida@einstein.edu
      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: info@acb.org
      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: info@instituteforfamilies.org
      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: 2020@nei.nih.gov
      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: nidcr@nih.gov
      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: napvi@perkins.org
      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: staff@navh.org
      Home page: http://www.navh.org
    • National Federation of the Blind
      1800 Johnson Street
      Baltimore MD 21230
      Phone #: 410-659-9314
      800 #: --
      e-mail: nfb@nfb.org
      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: info@thearc.org
      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: visionworldwide@yahoo.com
      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