Important It is possible that the main title of the report Nance-Horan 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.
cataract, X-linked, with Hutchinsonian teeth
Nance-Horan syndrome is a 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 intellectual impairment. The range and severity of symptoms may vary greatly from one person to another, including among affected members of the same family.
Nance-Horan syndrome is inherited as an X-linked trait that 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 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. Intellectual impairment rarely occurs in females.
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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: email@example.com 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: firstname.lastname@example.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: email@example.com Internet: http://www.acb.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: firstname.lastname@example.org Internet: http://www.nei.nih.gov/
NIH/National Institute of Dental and Craniofacial Research Building 31, Room 2C39 31 Center Drive, MSC 2290 Bethesda, MD 20892 USA Tel: (301)496-4261 Fax: (301)480-4098 Tel: (866)232-4528 Email: email@example.com Internet: http://www.nidcr.nih.gov/
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Anophthalmia/Microphthalmia Registry Albert Einstein Medical Center 5501 Old York Rd Genetics Levy 2 West Philadelphia, PA 19141 Tel: (215)456-8722 Fax: (215)456-2356 Email: email@example.com Internet: http://www.einstein.edu/yourhealth/genetic/article15698.html
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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
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Last Updated: 2/10/2011 Copyright 1996, 1997, 2001, 2011 National Organization for Rare Disorders, Inc.
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