Lenz Microphthalmia Syndrome

National Organization for Rare Disorders, Inc.

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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 dysmorphogenetic syndrome
  • Lenz dysplasia
  • Lenz syndrome
  • MAA
  • microphthalmia or anophthalmos with associated anomalies (obsolete)

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.

BCOR (MAA2 locus) is the only gene known to be associated with this syndrome.

Supporting Organizations

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: mailman@acb.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
USA
Tel: (215)456-8722
Fax: (215)456-2356
Tel: (800)580-4226
Email: ican@anophthalmia.org
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: 2020@nei.nih.gov
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: napvi@perkins.org
Website: 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: nfb@nfb.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). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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:  12/22/1969
Copyright  2012 National Organization for Rare Disorders, Inc.