Alstrom syndrome in four sibs from northern Jordan

Alstrom syndrome is a rare, autosomal recessive disorder, which was first described as a combination of atypical retinal degeneration, obesity, diabetes mellitus, and sensorineural hearing impairment.1 Other features that have been described in Alstrom syndrome include hypertriglyceridemia, hepatic dysfunction,2 slowly progressive chronic nephropathy hypothyroidism, male hypogonadism, acanthosis nigricans, cataracts, dilated cardiomyopathy,3 and intellectual impairment.4 The wide-ranging and complex spectrum of phenotypes reported among 182 patients in a recent review on Alstrom syndrome broadens those previously described.5 The gene for Alstrom syndrome has been localized to the short arm of chromosome 2 (2p12-13.13).6,7 We report four sibs with Alstrom syndrome from north Jordan with variable manifestations and mental subnormality. This is the first report of Alstrom syndrome from one of the East Mediterranean Arab countries.