| Main clinical features
|
lethal, with fibrocystic changes of the liver, typically manifesting as impeded development of the intrahepatic biliary system and ductal plate malformation, bilateral renal cystic dysplasia (cortical and medullary cysts with just focal regions of nephrogenic development), developmental defects of the central nervous system (most commonly occipital encephalocele), rare post-axial polydactyly, cleft lip/palate, laterality defects and congenital heart malformations including dextrocardia, shortening and bowing of the long tubular bones and abnormal development of the male genitalia |