Registry

The Cantu Syndrome Registry aims to create the largest source of medical and genetic information concerning individuals diagnosed with Cantu syndrome. Our goal is to utilize these details to examine and explain how the genetic component is associated with observed, phonotypical traits. Given the rarity of Cantu syndrome, our multi-national partnership, led by groups at Washington University in Saint Louis, USA,  the University Hospital in Bristol, England and at University Medical Center in Utrecht, Netherlands, is pooling together all the information known about diagnosed individuals.

Participation

  1. The only requirement for participation in our study is to have a confirmed or possible clinical diagnosis of Cantu syndrome.
    1. Possible signs and symptoms of Cantu 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.
  2. 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.
  3. There is no cost associated with being in this study and you will not be compensated for your participation. For more information or if you are interested in participating in the Cantu Registry, please contact:
    1. Dr. Kathy Grange
      Professor of Pediatrics, Division of Genetics and Genomic Medicine
      E-mail: grange_d@kids_wustl.edu
      Phone: (314) 454-6093
    2. Katie Shields
      Clinical Research Coordinator
      E-mail: k_shields@kids.wustl.edu
      Phone: (314) 286-1547
    3. Dr. Gijs van Haaften
      Assistant Professor, Department of Medical Genetics
      E-mail: G.vanHaaften@umcutrecht.nl
      Phone: +31 (0) 88 7567925