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
  • OCRL1
  • 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
18919 Voss Road
Dallas, TX 75287
USA
Tel: (972)733-1338
Email: info@lowesyndrome.org
Internet: http://www.lowesyndrome.org

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/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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