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Alström Syndrome

Abstract

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NORD is very grateful to Jan D. Marshall, Genetics Coordinator, Alström Syndrome Studies, The Jackson Laboratory, for assistance in the preparation of this report.

Synonyms of Alström Syndrome

  • ALMS
  • Alstrom-Halgren Syndrome

Disorder Subdivisions

  • No subdivisions found.

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.

Organizations related to Alström Syndrome

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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