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Alström syndrome

Contents of this page:

Definition    Return to top

Alström syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity.

Causes    Return to top

Alström syndrome is an autosomal recessive inherited disorder. This means that a person must inherit a copy of the defective gene from both parents to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States.

The altered gene, ALMS1, has been found. However, it is not yet known how this gene causes the disorder.

Symptoms    Return to top

Occasionally, the following can also occur:

Exams and Tests    Return to top

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

Tests may be done to check:

Treatment    Return to top

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

Support Groups    Return to top

Alström Syndrome International -- www.alstrom.org

Outlook (Prognosis)    Return to top

The following are likely to develop:

Kidney and liver failure may get worse.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Call your health care provider if you suspect symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you suspect that your infant or child cannot see or hear normally.

Update Date: 8/1/2008

Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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