Alström syndrome

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

Occasionally, the following are also associated:

• Hypothyroidism
• Liver dysfunction
• Small penis
• Gastrointestinal reflux

An ophthalmologist will examine the eyes. The patient may have reduced vision.

Tests may be done to check:

• Triglyceride levels
• Blood sugar levels (to diagnose hyperglycemia)
• Thyroid function
• Hearing
• Heart function (echocardiogram may be abnormal)

Review Date: 12/06/2006
Reviewed By: Ian Marshall, MD, Division of Pediatric Endocrinology, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, NJ. Review provided by VeriMed Healthcare Network.