The Alstrom syndrome: is it a rare or unknown disease?

Document Type


Publication Date



Cardiomyopathy-Congestive, Chromosome-Disorders, Chromosomes-Human-Pair-2, Diagnosis-Differential, Endocrine-Diseases, Genes-Recessive, Hearing, Heart-Failure-Congestive, Human, Musculoskeletal-Diseases, Respiratory-Tract-Diseases, Syndrome, Urologic-Diseases, Vision

JAX Location

see Reprint Collection

JAX Source

Ann Ital Med Int 2002 Oct-Dec; 17(4):221-8.


The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, obesity, progressive hearing impairment, non-insulin-dependent diabetes mellitus and kidney and heart failure. Mental retardation is absent and the extremities are normal. The Alstrom syndrome gene located on chromosome 2, has been recently identified. The Alstrom syndrome involves multiple organ systems with a complex interaction between pathways. Phenotypic expression varies considerably, even within sibships. Manifestations observed in some, but not all, Alstrom syndrome patients include acanthosis nigricans, alopecia, short stature, scoliosis, kyphosis, hyperostosis frontalis interna, muscle dystonia, advanced bone age and subcapsular cataract. Other metabolic and endocrinological abnormalities have been described: hypothyroidism, hypogonadism, diabetes insipidus, growth hormone deficiency, hyperuricemia and hyperlipidemia. In the final stages of the disease, affected individuals exhibit progressive chronic nephropathy with eventual kidney failure. The most frequent causes of death include hepatic dysfunction and congestive heart failure secondary to dilated cardiomyopathy. We have summarized our personal clinical data and the information from the scientific literature on the topic in order to provide an up-to-date review on the Alstrom syndrome.

Please contact the Joan Staats Library for information regarding this document.