Alström syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity.
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.
Occasionally, the following can also occur:
An eye doctor (ophthalmologist) will examine the eyes. The patient 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.
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.
Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector's The Kidney. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 41.
Reviewed 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.
Notice: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2012, A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.