Alstrom syndrome: A progressive genetic disorder characterized by obesity, deafness, and visual problems in childhood and diabetes with insulin resistance (type 2 diabetes) and kidney failure in adulthood. Individuals with Alstrom syndrome have been identified in over 20 countries. Although the syndrome is generally rare, it is unusually frequent among Acadians, both those living in Nova Scotia and those in Louisiana. The syndrome first described by C.H. Alstrom in Sweden in 1959. (It should therefore have two dots over the “o”.)
The earliest sign of the syndrome in infancy is often extreme light sensitivity (photophobia) and a wobbling of the eyes (nystagmus). Another of the early signs may be dilated cardiomyopathy (enlarged heart) and congestive heart failure in infants under 1 year of age. Infants with the syndrome gain excessive weight during the first year of life and become obese. Multiple organ systems later can be affected, resulting in blindness, hearing impairment, type 2 diabetes, heart failure, liver disease, urological dysfunction, pulmonary fibrosis, and renal failure. Additional features in some cases include hypothyroidism, male hypogonadism, short stature and mild to moderate developmental delay and the complications of type 2 diabetes such as hyperlipidemia (high lipids) and atherosclerosis. The visual defect involves cone-rod retinal dystrophy.
Alstrom syndrome is an autosomal recessive condition. Both parents carry one copy of the Alstrom gene and each of their offspring has a 25% risk of inheriting both of their Alstrom genes and of therefore having the syndrome. The gene for Alstrom syndrome is on chromosome 2 in band 2p13. The gene called ALMS1.
Alstrom syndrome is also known as Alstrom syndrome, Alstrom-Hallgren syndrome, and Alstrom-Hallgren syndrome.
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