Author:

Keywords:

Abnormalities, Multiple, Adult, Child, Cleft Lip, Cleft Palate, Female, Follow-Up Studies, Gastrointestinal Diseases, Humans, Kidney, Kidney Diseases, Liver, Liver Diseases, Quality of Life, Rare Diseases, Syndrome, Time Factors, Treatment Outcome, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, cholestasis, cleft lip, liver transplantation, pigmentary retinopathy, vesico-ureteral reflux, PIGMENTARY RETINOPATHY, FACIES, EARS, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

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.