Lowe Syndrome

Important
It is possible that the main title of the report Lowe 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

Cerebro-Oculorenal Dystrophy
Lowe's Disease
Lowe-Bickel Syndrome
Lowe-Terry-MacLachlan Syndrome
LS
OCRL
Oculocerebrorenal Dystrophy
Oculocerebrorenal Syndrome
Renal-Oculocerebrodystrophy
oculocerebrorenal syndrome of Lowe
OCRL 1

Disorder Subdivisions

None

General Discussion

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life and brain abnormalities that are associated with mental retardation. Lowe syndrome is inherited as an X-linked genetic condition.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Lowe Syndrome Association
18919 Voss Road
Dallas, TX 75287
USA
Tel: 6128695693
Fax: 6128663222
Email: info@lowesyndrome.org
Internet: http://www.lowesyndrome.org

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

NIH/National Human Genome Research Institute
31 Center Dr
Building 31, Rm 4B09
Bethesda, MD 20892
Tel: (301)402-0911
Internet: http://www.nhgri.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: 8/8/2007
Copyright 1986, 1987, 1988, 1989, 1990, 1992, 1994, 1997, 1999, 2007 National Organization for Rare Disorders, Inc.

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