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.
ETSU Physicians & Associates- Pediatrics
. Dr. Anand is rated as an Advanced provider by MediFind in the treatment of Cardiofaciocutaneous Syndrome. Her top areas of expertise are Pulmonary Valve Stenosis, Pulmonary Supravalvular Stenosis, Patent Ductus Arteriosus, and Familial Dilated Cardiomyopathy.
Atrium Health Levine Children's HEARTest Yard Congenital Heart Center
Jorge Alegria is a Cardiologist in Charlotte, North Carolina. Dr. Alegria is rated as an Advanced provider by MediFind in the treatment of Cardiofaciocutaneous Syndrome. His top areas of expertise are Transposition of the Great Arteries, Tetralogy of Fallot, Situs Inversus, and Dextrocardia with Situs Inversus. Dr. Alegria is currently accepting new patients.
UCL Great Ormond Street Institute Of Child Health
Louise Gregory practices in London, United Kingdom. Ms. Gregory is rated as an Elite expert by MediFind in the treatment of Cardiofaciocutaneous Syndrome. Her top areas of expertise are Familial Hypopituitarism, Hypopituitarism, Septo-Optic Dysplasia, and Cardiofaciocutaneous Syndrome.
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