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.
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.