Learn About Cantu Syndrome
Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.
Cantú syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open when it should be closed. It is unknown how this problem with potassium channel function leads to excess hair growth, heart defects, and the other features of Cantú syndrome.
Cantú syndrome is a rare condition. About three dozen affected individuals have been reported in the medical literature.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to cause the disorder.
University Pediatricians
Gautam Singh is a Pediatric Cardiologist and a Cardiologist in Detroit, Michigan. Dr. Singh is rated as an Elite provider by MediFind in the treatment of Cantu Syndrome. His top areas of expertise are Cantu Syndrome, Premature Infant, High Blood Pressure in Infants, Congenital Heart Disease (CHD), and Heart Transplant.
Gijs Van Haaften practices in Utrecht, Netherlands. Van Haaften is rated as an Elite expert by MediFind in the treatment of Cantu Syndrome. Their top areas of expertise are Hirsutism in Women, Cantu Syndrome, Acromegaloid Facial Appearance Syndrome, and Hypertrichosis-Acromegaloid Facial Appearance Syndrome.
Atrium Health Levine Children’s Cancer & Blood Disorders, A Facility Of Carolinas Medical Center
Amy Kelly is a Hematologist and an Oncologist in Charlotte, North Carolina. Ms. Kelly is rated as an Experienced provider by MediFind in the treatment of Cantu Syndrome. Her top areas of expertise are Medulloblastoma, Brain Tumor, Pediatric Low-Grade Glioma (pLGG), and Atypical Teratoid Rhabdoid Tumor (ATRT). Ms. Kelly is currently accepting new patients.
Published Date: January 01, 2013
Published By: National Institutes of Health