Cantú syndrome

Cantú syndrome is a rare genetic condition in which excess hair growth, a distinctive facial appearance and heart defects occur together with several other abnormalities. Affected people have thick scalp hair that reaches onto the forehead and cheeks, and extra hair on the back, arms and legs. The head is often large, and the face is described as coarse, with a broad nasal bridge, skin folds over the inner corners of the eyes and a wide mouth with full lips; with age the face lengthens and the chin becomes more prominent. Many infants are born large and with a heart problem such as an enlarged heart or a patent ductus arteriosus, and fluid around the heart or raised pressure in the lung blood vessels may follow. Other reported features include skeletal differences, reduced fat under the skin, deep creases in the palms and soles, lymphedema, scoliosis, low bone density, weak muscle tone and mild speech delay or learning difficulty. The condition results from mutations in the ABCC9 gene, which helps form a potassium channel, and it is inherited in an autosomal dominant pattern, though most cases arise as new mutations. About three dozen people had been reported in the medical literature, and it is also known as hypertrichotic osteochondrodysplasia.