Alström's syndrome

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Alström's syndrome

 [al´stromz]
an autosomal recessive syndrome usually occuring after age 10, consisting of retinitis pigmentosa with nystagmus and early loss of central vision, deafness, obesity, and diabetes mellitus.

Alström's syndrome

Etymology: Carl Henry Alström, Swedish geneticist, 1907-1993
an inherited disease characterized by multiple system resistance to hormones. Clinical features include retinal degeneration leading to childhood blindness, type 2 diabetes mellitus, infantile obesity, nerve deafness, baldness, hyperuricemia, and hypertriglyceridemia. Males may also have high plasma gonadotropin levels and hypogonadism. The condition is transmitted through an autosomal-recessive gene.
References in periodicals archive ?
Alstrom's syndrome is an extremely rare genetic syndrome with implications for anaesthesia.
He had been diagnosed with Alstrom's syndrome in early childhood.
Alstrom's syndrome is an autosomal recessive condition, first described in 1959 (1), for which the genetic abnormality related to the gene ALMS 1 at chromosome 2p13 has been recently characterised (2).
In view of the rarity of Alstrom's syndrome and phenotypic variability, it is frequently initially misdiagnosed as other genetic conditions with similar phenotypes, such as Leber's optic atrophy or Bardet-Biedl syndrome.