Aagenaes Syndrome is a rare disease, and the only identified hereditary lymphoedema which slows down or ceases bile flow resulting in cholestasis. However, lymphoedema may develop on its own due to other underlying hepatic ailments or lymphatic system disorders.
Aagenaes Syndrome can be easily misdiagnosed with biliary atresia, leading to unnecessary surgical intervention. Therefore, a proper diagnosis is imperative to start a correct clinical treatment of Aagenaes Syndrome.