Arts syndrome


How common is Arts syndrome?

Arts syndrome is a very rare disorder. So far, all of the individuals with Arts syndrome who have been reported in the medical literature come from fewer than five families. Some families had multiple members who were diagnosed with Arts syndrome. Because Arts syndrome is such a rare disorder, medical teams may not think of it as a possible diagnosis for a patient. Rare disorders are frequently unrecognized and they are also often diagnosed as a different disorder. As a result, the incidence and prevalence of rare disorders is often unclear or unknown.

Dodge JA, Chigladze T, Donadieu, et al. The importance of rare diseases: from the gene to society. J Arch Dis Child. 2011;96(9):791-2.

Mittal R, Patel K, Mittal J, et al. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015;2015:127013.

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