Jackson-Weiss SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Jackson-Weiss Syndrome
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet.
Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.
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 Jackson-Weiss 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 Jackson-Weiss 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 Jackson-Weiss 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: January 01, 2017
Published By: National Institutes of Health