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Lenz Microphthalmia Syndrome
Important
It is possible that the main title of the report Lenz Microphthalmia Syndromeis not the name you expected.
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.
BCOR (MAA2 locus) is the only gene known to be associated with this syndrome.
Resources
National Association for Visually Handicapped
22 West 21st Street
New York
NY
10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
staff@navh.org
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: (215)456-8722
Fax: (215)456-2356
800: (800)580-4226
bardakjiant@einstein.edu
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
800: (800)562-6265
napvi@perkins.org
http://www.napvi.org
National Federation of the Blind
1800 Johnson Street
Baltimore
MD
21230
USA
Tel: (410)659-9314
Fax: (410)685-5653
nfb@nfb.org
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
info@acb.org
http://www.acb.org/
NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda
MD
20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
2020@nei.nih.gov
http://www.nei.nih.gov/
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
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: 5/1/2009
Copyright 1996, 1997, 2000, 2004, 2009 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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