Char SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Char Syndrome
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.
Variants (also known as mutations) in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2β. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2β regulates genes that are involved in development before birth. In particular, this protein appears to play a role in the normal formation of structures in the face, heart, and limbs.
Char syndrome is rare, although its exact incidence is unknown. Only a few families with this condition have been identified worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Indian River Health Services Inc
Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of Char Syndrome. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.
Reading Hospital
Alan Chelius is a primary care provider, practicing in Family Medicine in West Reading, Pennsylvania. Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of Char Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Infant Hyperglycemia. Dr. Chelius is board certified in American Board Of Family Medicine. Dr. Chelius is currently accepting new patients.
University Hospitals Coordinated Care
Samantha Kiefer is a primary care provider, practicing in Family Medicine in Beachwood, Ohio. Dr. Kiefer is rated as an Experienced provider by MediFind in the treatment of Char Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Maturity Onset Diabetes of the Young, and High Cholesterol. Dr. Kiefer is currently accepting new patients.
Published Date: August 08, 2022
Published By: National Institutes of Health