Townes-Brocks SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Townes-Brocks Syndrome
Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. People with this condition often have at least two of these three major features.
Mutations in the SALL1 gene cause Townes-Brocks Syndrome. This gene provides instructions for making a protein that is involved in development before birth. The SALL1 protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes that direct the formation of many different tissues and organs before birth.
The prevalence of this condition is unknown. It is difficult to determine how frequently Townes-Brocks syndrome occurs because the varied signs and symptoms of this disorder overlap with those of other genetic syndromes.
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 Townes-Brocks 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 Townes-Brocks 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 Townes-Brocks 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: June 01, 2020
Published By: National Institutes of Health