Cantú syndrome

Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia and cardiomegaly. Less than 50 cases have been described in the literature.

History
This condition was first described by Cantu at al in 1982.

Clinical features
There is a characteristic facies.

The cardiac manifestations include patent ductus arteriosus, septal hypertrophy, pulmonary hypertension and pericardial effusions.

Neuro-developmental outcome appears to be normal. However obsessive traits and anxiety have been reported.

It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding. Additional possible associations include lymphoedema and heterochromia iridis.

Aetiology
Cantu et al suggested that this condition was inherited in an autosomal dominant fashion. This has since been confirmed. A possible link to a region on chromosome 4 (4q26-27) has been reported.