NORD gratefully acknowledges Jan D. Marshall, Genetics Coordinator, Alström Syndrome Studies, The Jackson Laboratory, for assistance in the preparation of this report.
SummaryAlström 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.
IntroductionThe 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.
RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease. For more information, visit www.rareconnect.org.
The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.
National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100