Alström syndrome
Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, deafness, diabetes, and obesity.
Alström syndrome is inherited in an autosomal recessive manner. This means both of your parents must pass on a copy of the variant gene (ALMS1) in order for you to have this disease.
It is unknown how the variant gene causes the disorder.
The condition is very rare.
Common symptoms of this condition are:
Occasionally, the following can also occur:
An eye doctor (ophthalmologist) will examine the eyes. The person may have reduced vision.
Tests may be done to check:
There is no specific treatment for this syndrome. Treatment for symptoms may include:
Alström Syndrome International -- www.alstrom.org
The following are likely to develop:
Kidney and liver failure may get worse.
Possible complications are:
Contact your health care provider if you or your child has symptoms of diabetes. Common symptoms of diabetes are increased thirst and urination. Seek medical attention right away if you think that your child cannot see or hear normally.
Dollfus H. Genetic syndromes associated with obesity. In: Loyns CJ, Lambert SR, eds. Taylor and Hoyt's Pediatric Ophthalmology and Strabismus. 6th ed. Philadelphia, PA: Elsevier; 2023:chap 46.
Haddad J. Hearing loss. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 677.
O'Rahilly S, Farooqi IS. Genetic syndromes associated with obesity. In: Robertson RP, ed. DeGroot's Endocrinology. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 21.
Torres VE, Harris PC. Cystic diseases of the kidney. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 45.
BACK TO TOPReview Date: 7/16/2024
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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