Alström Syndrome

National Organization for Rare Disorders, Inc.

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

  • ALMS
  • Alstrom-Halgren Syndrome

Disorder Subdivisions

  • None

General Discussion

Summary
Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The disorder is generally characterized by vision and hearing abnormalities, childhood obesity, insulin resistance, diabetes mellitus, heart disease (dilated cardiomyopathy) and slowly progressive kidney (renal) dysfunction, potentially leading to renal failure. The specific symptoms present and their severity may vary greatly from one person to another, even among members of the same family. Additional symptoms including lung (pulmonary), liver (hepatic) and endocrine dysfunction can also occur. Although some children may experience delays in attaining developmental milestones, intelligence is usually unaffected. Alström syndrome is caused by disruptions or defects (mutations) in the ALMS1 gene. Alström syndrome is inherited as an autosomal recessive trait.
Introduction
The disorder is named after Carl-Henry Alström, a Swedish psychiatrist who, in 1959, first described the condition in the medical literature. Alström syndrome is classified as a ciliopathy, a group of disorders characterized by the defects in the function or structure of cilia. Cilia are the hair-like structures that can be found in almost all types of cells in the body.

Supporting Organizations

Alström Syndrome International

14 Whitney Farm Road
Mount Desert, ME 4660
Tel: (800)371-3628
Email: jan.marshall@jax.org
Website: http://www.alstrom.org

Alström Syndrome UK

49 Southfield Avenue
Paignton
South Devon, TQ3 1LH
United Kingdom
Tel: 1803524238
Fax: 1803524238
Email: info@alstrom.org.uk
Website: http://www.Alstrom.org.uk

American Academy of Audiology

11730 Plaza America Drive, Suite 300
Reston, VA 20190
Tel: (703)790-8466
Fax: (703)790-8631
Tel: (800)222-2336
Email: infoaud@audiology.org
Website: http://www.audiology.org

American Society for Deaf Children

800 Florida Avenue NE
2047
Washington, DC 20002-3695
Tel: (866)895-4206
Fax: (410)795-0965
Tel: (800)942-2732
Email: asdc@deafchildren.org
Website: http://www.deafchildren.org

Better Hearing Institute

1444 I Street NW
Suite 700
Washington, DC 20005
United States
Tel: (202)449-1100
Fax: (703)684-6048
Tel: (800)327-9355
Email: mail@betterhearing.org
Website: http://www.betterhearing.org

Blind Children's Center

4120 Marathon Street
Los Angeles, CA 90029-3584
USA
Tel: (323)664-2153
Fax: (323)665-3828
Tel: (800)222-3566
Email: info@blindchildrenscenter.org
Website: http://www.blindchildrenscenter.org

Cardiomyopathy Association

Chiltern Court, Unit 10
Asheridge Rd Ind
Chesham, HP5 2PX
United Kingdom
Tel: 4401494791224
Fax: 4401494797199
Tel: 8000181024
Email: info@cardiomyopathy.org
Website: http://www.cardiomyopathy.org

Children's Cardiomyopathy Foundation

PO Box 547
Tenafly, NJ 7670
USA
Tel: (866)808-2873
Fax: (201)227-7016
Email: info@childrenscardiomyopathy.org
Website: http://www.childrenscardiomyopathy.org

Foundation Fighting Blindness

7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Tel: (410)423-0600
Fax: (410)872-0574
Tel: (800)683-5555
Email: info@FightBlindness.org
Website: http://www.blindness.org/

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
Website: http://rarediseases.info.nih.gov/GARD/

Little People of America, Inc.

250 El Camino Real Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Website: http://www.lpaonline.org/

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Website: http://www.marchofdimes.com

NIH/National Eye Institute

31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
Email: 2020@nei.nih.gov
Website: http://www.nei.nih.gov/

NIH/National Institute on Deafness and Other Communication Disorders

31 Center Drive, MSC 2320
Communication Avenue
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
Email: nidcdinfo@nidcd.nih.gov
Website: http://www.nidcd.nih.gov

National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317
Watertown, MA 02272-0317
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@perkins.org
Website: http://www.napvi.org

National Consortium on Deaf-Blindness

The Teaching Research Institute
345 N. Monmouth Avenue
Monmouth, OR 97361
Tel: (800)438-9376
Fax: (503)838-8150
Tel: (800)438-9376
Email: info@nationaldb.org
Website: http://www.nationaldb.org

Perkins School for the Blind

175 North Beacon Street
Watertown, MA 2472
Tel: (617)924-3434
Fax: (617)926-2027
Email: Info@Perkins.org
Website: http://www.Perkins.org

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:  12/15/1969
Copyright  2013 National Organization for Rare Disorders, Inc.