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Lowe Syndrome

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Copyright 1986, 1987, 1988, 1989, 1990, 1992, 1994, 1997, 1999, 2007

NORD is very grateful to Richard Alan Lewis MD, MS, Professor, Departments of Ophthalmology, Medicine, Pediatrics, and Molecular and Human Genetics, Baylor College of Medicine, for assistance in the preparation of this report.

Synonyms of Lowe Syndrome
  • OCRL
  • OCRL1
  • oculocerebrorenal syndrome
  • oculocerebrorenal syndrome of Lowe

Disorder Subdivisions



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.

Organizations related to Lowe Syndrome
  • Arc (a national organization on mental retardation)
    1010 Wayne Ave
    Suite 650
    Silver Spring MD 20910
    Phone #: 301-565-3842
    800 #: 800-433-5255
    e-mail: info@thearc.org
    Home page: http://www.thearc.org/
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: ordr@od.nih.gov
    Home page: http://rarediseases.info.nih.gov/Default.aspx
  • Lowe Syndrome Association
    18919 Voss Road
    Dallas TX 75287
    Phone #: 972-733-1338
    800 #: --
    e-mail: info@lowesyndrome.org
    Home page: http://www.lowesyndrome.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-997-4488
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • NIH/National Human Genome Research Institute
    31 Center Dr
    Building 31, Rm 4B09
    Bethesda MD 20892
    Phone #: 301-402-0911
    800 #: --
    e-mail: N/A
    Home page: http://www.nhgri.nih.gov/

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Last modified Wednesday, November 26, 2008