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Alstrom syndrome

What is Alstrom Syndrome?

Alstrom syndrome is an inherited condition that affects fat cells and tiny hair-like parts of a cell called cilia. Although severity of symptoms can vary from person to person, even among those in the same family, most individuals develop vision and hearing loss, obesity, diabetes, and heart disease. The cause of vision loss is called cone-rod dystrophy, which leads to extreme sensitivity to light and and involuntary rapid eye movements. Vision loss begins in infancy and worsens over time, with most individuals eventually losing all ability to see. Eighty five percent of people with the disease will develop hearing loss in both ears that slowly becomes more severe. Nearly all people with the disease have high lipid levels, become obese in childhood, and have moderate to high weights as adults. Resistance to insulin begins in childhood and type 2 diabetes mellitus usually develops in adolescence. Two thirds of people with Alstrom syndrome develop a type of heart defect called dilated cardiomyopathy and congestive heart failure, which often happens during infancy, but can also occur in childhood or adolescence.

Some people with Alstrom syndrome develop liver disease or kidney disease. Chronic respiratory infections begin early in childhood and eventually cause various types of lung illnesses. Other common symptoms include short stature; scoliosis or kyphosis; extra, missing, or mislocated teeth and urinary problems. Most people with Alstrom syndrome have normal intelligence, but may have delayed developmental milestones.

Another common Alstrom syndrome symptom includes abnormal sexual development. About eighty percent of males with Alstrom syndrome do not produce enough testosterone and have small external genitalia and degeneration of the testes. Females with Alstrom syndrome may begin puberty early, and their periods may be abnormal or absent. Females also may have abnormal hair growth, hair that is completely absent in places, endometriosis, or polycystic ovaries. Most people with Alstrom syndrome cannot have biological children.

How common is Alstrom Syndrome?

Alstrom syndrome is considered a rare disorder. It is unknown exactly how often the condition occurs in the general population, though estimates range from 1 in 100,000 to less than 1 in 1,000,000. Only about 800 people have been diagnosed worldwide. The frequency is higher in isolated populations or those where marriage between blood relatives (consanguinity) is common.

How is Alstrom Syndrome treated?

There is no cure for Alstrom syndrome, but careful monitoring of vision, hearing, liver, heart, thyroid, and kidney function is important for detecting and treating symptoms early. Young children benefit from red tinted prescription glasses, development of non-visual language skills, and hearing aids. Cardiac function should be routinely monitored by echocardiography and patients who develop cardiomyopathy need to take angiotensin-converting enzyme (ACE) inhibitors. Physical exercise is important for weight management. Some patients require insulin, insulin-sensitizing agents, or thiazolidinediones. Patients may also need hormone replacement therapy. Intermittent self-catheterization can help with bladder control. Some patients may need specific medications and treatments to help with liver and kidney problems. Patients and their families benefit greatly from seeking social and emotional support to cope with the isolation that may come with living with a rare and complicated disorder.

What is the prognosis for a person with Alstrom Syndrome?

Prognosis is highly variable due to the range of disease presentations. Alstrom syndrome is associated with a number of chronic life-threatening issues, such as congestive heart failure and end-stage renal disease, the two major causes of death. Death typically occurs before age 40.