Despite the high incidence of cystic kidney diseases, affected families are not usually well informed of the inheritance of these disorders. Genetic counselling must be based on precise diagnostic criteria. Detailed information on the different types of cystic kidney disease is summarized, including clinical features, pathology, radiology, prenatal diagnosis and the risk of recurrence. In addition, a genetic interpretation is given of the Caroli syndrome, Potter sequence as well as congenital hepatic fibrosis.