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Alström syndrome

Definition

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 your parents must pass on a copy of the defective gene (ALMS1) in order for you to have this disease.

It is unknown how the defective 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:

Treatment

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

  • Diabetes medicine
  • Hearing aids
  • Heart medicine
  • 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

Call 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.

References

Farooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 28.

Torres VE, Harris PC. Cystic diseases of the kidney. In: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner and Rector's The Kidney. 10th ed. Philadelphia, PA: Elsevier; 2016:chap 46.

Review Date:8/31/2016
Reviewed By:Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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Outcome Data

No data available for this condition/procedure.

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