[1][2] The genetic cause is due to point mutation (c.-98G>T) in the 5’-untranslated region of Unc-45 myosin chaperone A (UNC45A)[3] and 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.

[5] 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.

[8] The first case of cholestasis usually improves spontaneously during preschool and early school age and returns at various intervals of two to six months.

[5] A biochemical analysis revealed a significant increase of bilirubin concentration in patients in the first months of life, with a later decrease.

[10][11] Patients without observed liver cirrhosis compared to the control group had elevated levels of ALP (alkaline phosphatase) and GGT (gamma-glutamyl transferase).

[10] There was only a slight increase in mean cell hemoglobin (MCH) in terms of erythrocyte, leukocyte and platelet counts.