Lenz Microphthalmia Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Lenz Microphthalmia Syndrome is not the name you expected.
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.
BCOR (MAA2 locus) is the only gene known to be associated with this syndrome.
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: firstname.lastname@example.org
- Website: http://www.acb.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
- Website: http://rarediseases.info.nih.gov/GARD/
International Children's Anophthalmia Network (ICAN)
- c/o Center for Devel Medicine & Genetics
- 5501 Old York Road
- Philadelphia, PA 19141
- Tel: (215)456-8722
- Fax: (215)456-2356
- Tel: (800)580-4226
- Email: email@example.com
- Website: http://www.anophthalmia.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
- Website: http://www.nei.nih.gov/
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
- Website: http://www.napvi.org
National Federation of the Blind
- 200 East Wells Street
- at Jernigan Place
- Baltimore, MD 21230
- Tel: (410)659-9314
- Fax: (410)685-5653
- Email: firstname.lastname@example.org
- Website: http://www.nfb.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
Last Updated: 3/27/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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