Alström syndrome is an inherited disease marked by blindness, deafness, diabetes, and obesity.

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

The mutated gene, ALMS1, has been identified, but it is not yet known how this gene causes the disorder.

• 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)