Registry

The Cantu syndrome registry aims to compile the largest collection of medical and genetic data on individuals diagnosed with Cantu syndrome. Our goal is to explore the relationship between genetic components and observed phenotypical traits. Due to the rarity of Cantu syndrome, our multinational partnership—led by groups at WashU Medicine in the United States, the University Hospital in Bristol, England, and University Medical Center in Utrecht, Netherlands—is aggregating all known information on diagnosed individuals.

Participation

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

Possible signs and symptoms include excessive body hair, coarse facial features, a flat nasal bridge, full lips, a long philtrum (the area between the upper lip and nose), heart problems, peripheral edema and abnormal bone development, among others.

Once enrolled, participants will be asked to complete a questionnaire, either via a mailed paper form or an electronic form sent through REDCap, an encrypted, HIPAA-certified data collection tool. The questionnaire will gather the affected individual’s medical history and health information. We will follow up annually to update the participant’s record for our research.

There is no cost for participating in the study, and participants will not be compensated. For more information or assistance with the Cantu syndrome registry, please contact: