Cardiofaciocutaneous SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Cardiofaciocutaneous Syndrome
View Main Condition: RASopathies
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.
Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. Variants in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from variants in one of two similar genes, MAP2K1 and MAP2K2. Fewer than 5 percent of cases are caused by variants in the KRAS gene.
Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition.
Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered gene in each cell is sufficient to cause the disorder.
Mount Sinai
Bruce Gelb is a Pediatric Cardiologist practicing medicine in New York, New York. Dr. Gelb is rated as an Elite provider by MediFind in the treatment of Cardiofaciocutaneous Syndrome. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses RASopathies, Congenital Heart Disease (CHD), Cardiomyopathic Lentiginosis, Noonan Syndrome, and Heart Transplant.
ETSU Physicians & Associates- Pediatrics
Rajani Anand is a Pediatric Cardiologist practicing medicine in Johnson City, Tennessee. Dr. Anand is rated as an Advanced provider by MediFind in the treatment of Cardiofaciocutaneous Syndrome. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Pulmonary Supravalvular Stenosis, Pulmonary Valve Stenosis, Patent Ductus Arteriosus, and Familial Dilated Cardiomyopathy. Dr. Anand is board certified in American Board Of Pediatrics.
Atrium Health Levine Children's HEARTest Yard Congenital Heart Center
Jorge Alegria is a Cardiologist practicing medicine in Charlotte, North Carolina. Dr. Alegria is rated as an Advanced provider by MediFind in the treatment of Cardiofaciocutaneous Syndrome. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Transposition of the Great Arteries, Tetralogy of Fallot, Situs Inversus, and Dextrocardia with Situs Inversus. Dr. Alegria is board certified in American Board Of Internal Medicine and American Board Of Internal Medicine, Cardiovascular Disease. Dr. Alegria is currently accepting new patients.
Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more.
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful. Acceptance and Commitment Therapy (ACT) is a therapy that helps people become more aware and accepting of difficult thoughts and feelings. ACT has been found to be helpful for parents with high parenting stress...
Published Date: March 28, 2022
Published By: National Institutes of Health