Alström syndrome is a very rare disease passed down through families (inherited) that can lead to
Causes, incidence, and risk factors
Alström syndrome is inherited in an
It is unknown how the defective gene causes the disorder.
The condition is extremely rare. It is more common in Holland and Sweden than in the United States.
- Blindness or severe
vision impairmentin infancy
- Dark patches of skin (acanthosis nigricans)
- Impaired heart function (
cardiomyopathy), which may lead to heart failure
- Progressive kidney failure
- Slowed growth
- Symptoms of childhood-onset or type 2 diabetes
Occasionally, the following can also occur:
- Liver dysfunction
- Small penis
Signs and tests
An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.
Tests may be done to check:
Blood sugar levels (to diagnose
- Thyroid function
There is no specific treatment for this syndrome. Treatment for symptoms may include:
Thyroid hormone replacement
Alström Syndrome International —
The following are likely to develop:
Type 2 diabetes
Kidney and liver failure may get worse.
Complications from diabetes
Fatigue and shortness of breath (if poor heart function isn’t treated)
Calling your health care provider
Call your health care provider if you or your child have symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you think that your child cannot see or hear normally.