Cantú Syndrome Registry


The Cantú Syndrome Registry aims to create the largest source of medical and genetic information concerning individuals diagnosed with Cantú syndrome. Our goal is to utilise these details to examine and explain how the genetic component is associated with observed, phonotypical traits.

Registry Location International - available to Australians
Registry Participation Voluntary
Registry Contact

Professor Edwin Kirk


Ms Samantha Mason


Adding New Patients to Registry

Taking part involves a parent (or the patient, if an adult and able to participate) spending about an hour on the phone with Samantha. If possible we would be grateful for information on the specific ABCC9 or KCNJ8 variant in the family (if any).

The only requirement for participation in our study is to have a confirmed or possible clinical diagnosis of Cantu syndrome.

Possible signs and symptoms of Cantú syndrome include an abnormal amount of body hair, coarse facial appearance, flat nasal bridge, full lips, a long philtrum (area between the upper lip and nose), cardiac enlargement or other heart problems, peripheral edema, and abnormal bone development, among many others.

Once enrolled, we will ask you to fill out a questionnaire, either via a paper form we will mail to you, or an electronic form sent to you through REDCap, an encrypted, HIPAA-certified data collection tool. This questionnaire will ask about the affected individual’s medical history and health information. Each year, we will follow up to check on the participant and maintain a current record for our research.
There is no cost associated with being in this study and you will not be compensated for your participation.

Please see the website for more information