Lenz Microphthalmia Syndrome
Content provided by National Organization for Rare Disorders
Important
It is possible that the main title of the report Lenz Microphthalmia 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
- Lenz Syndrome
- Lenz Dysplasia
- Microphthalmia or Anophthalmos with Associated Anomalies (obsolete)
- MAA
- Lenz Dysmorphogenetic Syndrome
Disorder Subdivisions
- None
General Discussion
Lenz Microphthalmia syndrome is an extremely rare inherited disorder characterized by abnormal smallness of one or both eyes (unilateral or bilateral microphthalmos) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. In rare cases, affected infants may exhibit complete absence of the eyes (anophthalmia). Most affected infants also exhibit developmental delay and mental retardation, ranging from mild to severe. Additional physical abnormalities are often associated with this disorder such as an unusually small head (microcephaly) and/or malformations of the teeth, ears, and/or fingers and/or toes (digits). The range and severity of findings may vary from case to case.
Lenz microphthalmia syndrome, which is inherited as an X-linked recessive genetic trait, is fully expressed in males only. However, females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, and/or malformations of the fingers and/or toes.
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Resources
National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: 2128893141
Fax: 2127272931
Email: staff@navh.org
Internet: http://www.navh.org
International Children's Anophthalmia Network (ican)
5501 Old York Road
Albert Einstein Medical Center, Levy 2 West
(ican) C/O Genetics
Philadelphia, PA 19141
USA
Tel: 2154568722
Fax: 2154562356
Tel: 8005804226
Email: bardakjiant@einstein.edu
Internet: http://www.anophthalmia.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
1800 Johnson Street
Baltimore, MD 21230
USA
Tel: 4106599314
Fax: 4106855653
Email: nfb@nfb.org
Internet: http://www.nfb.org
Council of Families with Visual Impairment
1155 15th St. NW
Suite 1004
Washington, DC 20005
Tel: (202)465-5081
Fax: (202)465-5085
Email: info@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: 3014965248
Fax: 3014021065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/
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
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: 4/22/2004
Copyright 1996, 1997, 2000, 2004 National Organization for Rare Disorders, Inc.
| Last updated: | April 22, 2004 |
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