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Alström syndrome

Symptoms: 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 Signs and tests: 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. Text Continues Below

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