Aagenaes syndrome

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 tracts¹. more...

The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q^1,2. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin¹. The condition is particularly frequent in southern Norway, where more than half the cases are reported from, but is found in patients in other parts of Europe and the US². It is named after Oystein Aagenaes, a Norwegian paediatrician.

Also called cholestasis-lymphedema syndrome (CLS).

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