Aagenaes syndrome
The Aagenaes syndrome or cholestasis - lymphedema syndrome ( CHLS ) is characterized by a congenital underdevelopment of the lymphatic vessels, which leads to lymphedema in the legs and recurrent cholestasis in infancy. Later, cirrhosis develops.
The Aagenaes syndrome is apparently inherited as an autosomal recessive trait. The genetic error is localized on chromosome 15q.
The prognosis of the very rare disease is relatively low. Approximately 50 percent of patients have a normal life expectancy.