GeezerVison is showing medlineplus.gov — Alstrom syndrome: MedlinePlus Medical Encyclopedia

Alstrom 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.

Causes

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.

Symptoms

Common symptoms of this condition are:

Blindness or severe vision impairment in infancy
Dark patches of skin (acanthosis nigricans)
Deafness
Impaired heart function (cardiomyopathy), which may lead to heart failure
Obesity
Progressive kidney failure
Slowed growth
Symptoms of childhood-onset or type 2 diabetes

Occasionally, the following can also occur:

Gastrointestinal reflux
Hypothyroidism
Liver dysfunction
Small penis

Exams and Tests

An eye doctor (ophthalmologist) will examine the eyes. The person may have reduced vision.

Tests may be done to check:

Blood sugar levels (to diagnose high blood sugar or hyperglycemia)
Hearing
Heart function
Thyroid function
Triglyceride levels

Treatment

There is no specific treatment for this syndrome. Treatment for symptoms may include:

Diabetes medicines
Hearing aids
Heart medicines
Thyroid hormone replacement

Support Groups

Alström Syndrome International -- www.alstrom.org

Outlook (Prognosis)

The following are likely to develop:

Deafness
Permanent blindness
Type 2 diabetes

Kidney and liver failure may get worse.

Possible Complications

Possible complications are:

Complications from diabetes
Coronary artery disease (from diabetes and high cholesterol)
Fatigue and shortness of breath (if poor heart function is not treated)

When to Contact a Medical Professional

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.

Alternative Names

Alström-Halgren syndrome; ALMS

References

Chebib FT, Hanna C, Dahl NK. Cystic kidney diseases. In: Luyckx VA, Chertow GM, Yu ASL, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 12th ed. Philadelphia, PA: Elsevier; 2026:chap 45.

Dollfus H. Retinal dystrophies with systemic associations and the retinal ciliopathies. In: Lyons 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.

Review Date 7/3/2026

Updated by: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Regional Medical Director of Penn Medicine Primary and Specialty Care, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

GeezerVison