Alström Syndrome

The disorder is named after Carl-Henry Alström, a Swedish psychiatrist who, in 1959, first described the condition in the medical literature.

Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. The disorder is generally characterized by vision and hearing abnormalities, and obesity in childhood, insulin resistance, diabetes mellitus, heart disease (dilated cardiomyopathy) and slowly progressive kidney (renal) dysfunction, potentially leading to renal failure. Additional symptoms including lung (pulmonary), liver (hepatic), kidney (renal), and endocrine dysfunction can also occur. Although some children may experience delays in attaining developmental milestones, intelligence is usually unaffected. Alström syndrome is caused by disruptions or defects (mutations) in the ALMS1 gene. The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. Alström syndrome is inherited as an autosomal recessive trait.

Alström Syndrome is very rare. Alström syndrome affects males and females in equal numbers. The exact incidence is unknown. Estimates have ranged from 1 in 10,000 to less than 1 in 1,000,000 individuals in the general population. Approximately 1200 affected individuals have been identified worldwide. Because some cases of Alström syndrome may go unrecognized or misdiagnosed, the disorder may be under-diagnosed, making it difficult to determine its true frequency in the general population.

Alström syndrome occurs with greater frequency in ethnically isolated communities.

Signs and Symptoms-Alström Syndrome

Causes of Alström Syndrome

Diagnosis of Alström Syndrome

Treating Alström Syndrome



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