11 year old boy mild macrocytosis and mild pancytopenia. Bone marrow is mildly hypocellular marrow (30-40%) with mild dyserythropoiesis and dysmegakaryopoiesis, but no increase in blast cells. FISH analysis showed a monosomy 7. Further genetic testing identified a GATA2 mutation in him and one sibling. Physical findings included extensive warts on hand and feet as well as abnormalities of the lymphatic system. The patient was diagnosed with Emberger syndrome. Emberger syndrome is a very rare genetic disorder characterised by primary lymphoedema generally confined to the lower limbs and genitals and myelodysplasia associated with a greatly increased risk of acute myeloid leukaemia (AML). GATA2 mutations have been identified in patients with Emberger Syndrome and is thought to be the causative factor.