Journal article

Hardikar Syndrome: Long Term Outcome of a Rare Genetic Disorder

Andreas Nydegger, Maria Van Dyck, Robert A Fisher, Jaak Jaeken, Winita Hardikar

American Journal of Medical Genetics Part A | WILEY | Published : 2008


Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. The syndrome is clearly distinct from other previously described syndromes such as Alagille syndrome, congenital hepatic fibrosis, Caroli disease, and Kabuki make-up syndrome. To date, only four cases of Hardikar syndrome have been published worldwide. We report here on the long term outcome of these patients.