<unk>  is a syndrome characterised by 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. The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q1,2. A common feature of the condition is a generalised lymphoedema from birth or childhood caused by hypoplasia of the lymphatic vessels in origin1. Approximately one hundred people with this disease are known. The condition is particularly frequent in southern Norway, where more than half the cases are reported, but it is found in patients in other parts of Europe and the United States. It is named after Øystein Aagenæs, a Norwegian paediatrician. It is also called cholestasis-lymphedema syndrome (CLS). The first case of cholestasis usually improves spontaneously during preschool and early school age and returns at various intervals of two to six months. The severity of the disease varies in these patients, with some even experiencing complete liver failure. In these cases, liver transplantation is necessary. Untreated cholestasis is accompanied by jaundice, itching, malabsorption of fat and fat-soluble vitamins. This can lead to skeletal abnormalities and a higher susceptibility to bleeding. In early childhood and adolescence, lymphedema most often develops in all patients' lower limbs, but the upper limbs or chest are no exception. Untreated lymphedema can cause chronic tissue damage.
Aagenaes syndrome
Koolen–De Vries syndrome
Pelger–Huët anomaly
Barakat-Perenthaler syndrome
Wildervanck syndrome
Van der Woude syndrome
Van Den Bosch syndrome
Laron syndrome