Milroy disease (MD) is a form of primary lymphoedema with congenital onset and autosomal dominant inheritance. The location of a gene responsible for at least some cases of the disorder was discovered on chromosome 5q 35.3 (1, 2), and the mutated gene identified as coding for vascular endothelial growth factor receptor 3 (VEGFR3)(1, 3, 4). There are few associated features with MD, other than large calibre leg veins (23%) and hydrocele in men (37%)(5); so, any parameters that aid in delineating it from other, similar, forms of primary lymphoedema are helpful. Congenital onset of the swelling is one such sign, and a family history of the disease has always been considered a strong indicator in making the correct diagnosis (5, 6). Milroy himself included it as a prerequisite (6). Although new mutations in a dominantly inherited disorder are not unexpected, there has only been one reported to date (7). We present three cases of children with congenital onset of lymphoedema but no family history, all of whom have mutations in VEGFR3 which are not present in either parent, confirming that a family history of MD is not necessary for a diagnosis. All patients (two boys, one girl) were ascertained via a joint specialist (dermatology and genetics) primary lymphoedema clinic. All the patients and their parents were examined by at least two of the authors (GB, SM or PM).