Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.

Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alström syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.

• Vision abnormalities, specifically cone-rod dystrophy and cataracts
• Progressive sensorineural hearing loss in both ears and chronic infection or inflammation of the middle ear
• Heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy)
• Excessive eating (hyperphagia) and rapid weight gain leading to obesity
• Insulin resistance leading to high levels of insulin in the blood (hyperinsulinemia) and type 2 diabetes mellitus
• Elevated levels of fats (lipids) in the blood (hyperlipidemia)
• Fatty liver that may progress to significant liver disease
• Short stature
• Skin findings including abnormally increased coloration and “velvety” thickening of the skin in certain areas of the body (acanthosis nigricans)
• Lower hormone levels produced by the male testes or the female ovaries (hypogonadism)

• 25% (1 in 4) chance to be affected
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% (1 in 4) chance to be unaffected and not be a carrier

• Specially-tinted, prescription glasses and vision aids to assist with vision loss
• Hearing aids and cochlear implants for hearing loss
• Dietary measures, exercise programs, and oral medications and/or insulin to control diabetes
• ACE inhibitors and other medications to manage heart and kidney problems with some individuals requiring a kidney or heart transplant
• Hormone therapy if the male testes or female ovaries produce lower than average levels