Cantu SyndromeSymptoms, Doctors, Treatments, Advances & More
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.
DMC Children's Hospital Of Michigan
Gautam Singh is a Pediatric Cardiologist practicing medicine in Detroit, Michigan. Dr. Singh is rated as an Elite provider by MediFind in the treatment of Cantu Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Cantu Syndrome, Premature Infant, High Blood Pressure in Infants, and Congenital Heart Disease (CHD).
Gijs Van Haaften practices practicing medicine in Utrecht, Netherlands. Van Haaften is rated as an Elite expert by MediFind in the treatment of Cantu Syndrome. They are also highly rated in 16 other conditions, according to our data. Their clinical expertise encompasses Hirsutism in Women, Cantu Syndrome, Hypertrichosis-Acromegaloid Facial Appearance Syndrome, and Acromegaloid Facial Appearance Syndrome.
ETSU Pediatrics- St. Jude's Clinic
Marcela Popescu is a Hematologist and an Oncologist practicing medicine in Johnson City, Tennessee. Dr. Popescu is rated as an Experienced provider by MediFind in the treatment of Cantu Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Hereditary Spherocytosis, Von Willebrand Disease (VWD), Evans Syndrome, and Hemophilic Arthropathy. Dr. Popescu is board certified in American Board Of Pediatrics.
Published Date: January 01, 2013
Published By: National Institutes of Health