Beare-Stevenson Cutis Gyrata SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Beare-Stevenson Cutis Gyrata Syndrome
Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (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 Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes prolonged signaling, which is thought to interfere with skeletal and skin development.
Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Approximately 25 people with this condition have been reported 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. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Beare-Stevenson Cutis Gyrata Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.
Atrium Health Levine Children's Nephrology
Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Beare-Stevenson Cutis Gyrata Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.
Advocate Heart Institute
Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist practicing medicine in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of Beare-Stevenson Cutis Gyrata Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Pulmonary Hypertension, Pulmonary Veno-Occlusive Disease, Hypertensive Heart Disease, and Heart Transplant. Dr. Pauwaa is board certified in American Board Of Internal Medicine, Advanced Heart Failure And Transplant Cardiology.
Published Date: June 01, 2020
Published By: National Institutes of Health