Fanconi syndrome is an autosomal recessive, inherited disorder characterized by pancytopenia, bone marrow hypoplasia, and patchy brown skin discolorations resulting from melanin deposits. The melanin deposits are associated with multiple anomalies of the musculoskeletal and genitourinary systems.

A true estimate of the frequency of Fanconi syndrome is not available. This disorder develops in association with several conditions, either inherited or acquired.

Fanconi syndrome can be inherited, secondary, or idiopathic. The idiopathic form does not have an identifiable cause. Some cases are inherited.