Alstrom syndrome is a rare disorder that presents during childhood.
Chromosome affected: 2p
Inheritance: autosomal recessive
Clinical features:
(1) early onset of obesity
(2) retinal degeneration with loss of central vision
(3) diabetes mellitus with hyperinsulinemia
(4) sensorineural hearing loss
(5) short stature
(6) chronic nephropathy
(7) hyperlipidemia
(8) acanthosis nigricans
(9) hepatic dysfunction
(10) hypothyroidism
(11) hypogonadism
(12) alopecia
(13) band-like enamal hypoplasia of anterior teeth
where:
• Several of the features correspond to the metabolic syndrome.
