Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. In anatomy, lymph vessels are thin walled, valved structures that carry lymph away from the tissues, through the lymph nodes and thoracic duct back to the general circulation. ... Lymphedema is a condition of localized fluid retention caused by a compromised lymphatic system. ... A human infant The word Infant derives from the Latin in-fans, meaning unable to speak. ... Cirrhosis is a chronic disease of the liver in which liver tissue is replaced by connective tissue, resulting in the loss of liver function. ... Fibrosis is the formation or development of excess fibrous connective tissue in an organ or tissue as a reparative or reactive process, as opposed to formation of fibrous tissue as a normal constituent of an organ or tissue. ...

The genetic cause is unknown, but a common feature of the condition is a generalized lymphatic anomaly, which may be indicative of the defect being of lymphangiogenetic origin.

Also called cholestatic-lymphedema syndrome.