Hermansky Pudlak Syndrome

Synonyms

• Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells
• Delta Storage Pool Disease
• HPS

Disorder Subdivisions

• None

General Discussion

Hermansky-Pudlak Syndrome is a rare, hereditary disorder that consists of four characteristics: lack of skin pigmentation (albinism), blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body.

Resources

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: 2128893141
Fax: 2127272931
Email: staff@navh.org
Internet: http://www.navh.org

Hermansky-Pudlak Syndrome Network, Inc.
One South Road
Oyster Bay, NY 11771-1905
Tel: (516)922-4022
Fax: (516)624-0640
Tel: (800)789-9477
Email: appell@worldnet.att.net or dappell@hpsnetwork.org
Internet: http://www.hermansky-pudlak.org or http://www.hpsnetwork.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
Tel: (800)562-6265
Email: napvi@perkins.org
Internet: http://www.napvi.org

Blind Children's Fund
311 W. Broadway
Suite 1
Mt. Pleasant, MI 48858
Tel: (989)779-9966
Fax: (989)779-0015
Email: bcf@blindchildrensfund.org
Internet: http://www.blindchildrensfund.org

Gahl, William A., M.D.
National Institute of Child Health and Human Development
Section of Human Biochemcal Genetics
Building 10, Room 9S242
Bethesda, MD 20892
Tel: (301)496-9101

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nih.gov/hichd/

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: 12/28/2005
Copyright 1993, 1998, 1999, 2005 National Organization for Rare Disorders, Inc.