What is Cantu syndrome?

Cantu syndrome is a rare genetic condition which has been reported in the medical literature in about 150 people. The true incidence is unknown. It may be more common than previously recognized. The syndrome was first described in 1982 by Dr Cantu. It is also known as hirsutism-osteochondrodysplasia-cardiomegaly syndrome, which describes the major characteristics of the condition including excess growth of body hair, abnormal bone structures on x-rays and enlarged heart and other cardiac abnormalities. Since the original description, additional single case reports and reviews of the medical concerns in small groups of patients have been reported. In 2012, the genetic basis for Cantu syndrome was found to be due to mutations in the ABCC9 gene. A few patients have been found to have a mutation in KCNJ8, a second cause of Cantu syndrome.

What are the clinical features of Cantu syndrome?

Our glossary provides a list of clinical features.

How is Cantu syndrome inherited?

It is an autosomal dominant condition, which means that a mutation in only one copy of an individual’s ABCC9 genes is necessary to cause the condition, and the other copy of the ABCC9 gene is normal. Cantu syndrome runs in families and can be passed from a parent to a child. Thus far, the majority of the reported cases of Cantu syndrome have occurred in single individuals with families, consistent with a new mutation occurring in the ABCC9 gene just in that person. However, when an individual has Cantu syndrome, there is a 50% chance to pass the condition on to each of their children.