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Lowe Syndrome

National Organization for Rare Disorders, Inc.

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

  • OCRL
  • oculocerebrorenal syndrome
  • oculocerebrorenal syndrome of Lowe

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)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Lowe Syndrome Association
PO Box 864346
Plano, TX 75086-4346
USA
Tel: (972)733-1338
Email: info@lowesyndrome.org
Internet: http://www.lowesyndrome.org

NIH/National Human Genome Research Institute
Building 31, Room 4B09
31 Center Drive, MSC 2152
9000 Rockville Pike
Room 617
Bethesda, MD 20892-2152
Tel: (301)402-0911
Fax: (301)402-2218
Internet: http://www.nhgri.nih.gov/

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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

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:  8/8/2007
Copyright  1986, 1987, 1988, 1989, 1990, 1992, 1994, 1997, 1999, 2007 National Organization for Rare Disorders, Inc.

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