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, was recently 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

• The eyes are examined by an ophthalmologist (standard ophthalmic examination) and show reduced visual ability.
• Blood tests, such as a chem-20, may show an elevation of serum triglycerides and hyperglycemia (high blood sugar).
• Tests evaluating thyroid function may be abnormal (high TSH, low free T4).
• Hearing tests may be abnormal.
• Tests of heart function (echocardiogram) may be abnormal.

There is no specific treatment for this syndrome. Diabetes can be treated with oral medications, insulin, or a combination of both. Cholesterol can be reduced with medications. Hearing can be augmented with hearing aids.

If heart abnormalities are present, medications such as ACE inhibitors, beta-blockers, or spironolactone can be given to improve heart function. Hypothyroidism can be treated with thyroid hormone replacement.

Alström Syndrome International

14 Whitney Farm Road

Mount Desert, Maine 04660

Permanent blindness and deafness is likely to develop. Type 2 diabetes develops. Kidney and liver failure may progress.

Complications related to diabetes can occur. Impaired heart function, if untreated, can lead to fatigue and shortness of breath. Diabetes and high cholesterol increase the risk of coronary artery disease.

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.