Hennekam lymphangiectasia-lymphoedema syndrome (Q99531)

Hennekam lymphangiectasia-lymphoedema syndrome (Hennekam syndrome) is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. Lymphoedema affects the face, lower limbs and genitalia; if not present at birth, it tends to appear by early infancy. Intestinal lymphangiectasia may result in protein-losing enteropathy, growth retardation, peripheral oedema and ascites. Facial signs include a flat face, a broad and depressed nasal bridge, hypertelorism, epicanthal folds, a small mouth, and low-set ears.