HUM-MOLGEN DIAGnostics/Clinical Research

24 August 1997
Alstrvm disease

Alstrvm Syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degeneration begining in infancy, sensorineural hearing loss, childhood obesity, non-insulin dependent diabetes mellitus, hyperlipidemia, and chronic nephropathy. Features occasionally observed include acanthosis nigricans, hypogonadism, hypothyroidism, alopecia, shortstature, hepatic dysfunction, and dilated cardiomyopathy. Researchers at The Jackson Laboratory are investigating Alstrvm Syndrome. We have localized the gene to a small region on chromosome 2p. We are very interested in identifying more families with children (living or deceased) diagnosed with Alstrvm Syndrome in order to continue our efforts to identify the gene.

Interested individuals should contact

Jan D. Marshall
Genetics Coordinator

Jan D. Marshall
Genetics Coordinator
Alstrvm Syndrome Family Study
The Jackson Laboratory
600 Main Street
Bar Harbor, Maine USA 04609
phone: 1-800-371-3628
Fax: [207] 288-6078