Schinzel-Giedion SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Schinzel-Giedion Syndrome
Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.
Schinzel-Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein that attaches (binds) to certain regions of DNA to increase gene activity (expression). The SETBP1 protein is found throughout the body, but protein levels are highest during brain development before birth. During this time, nerve cells grow and divide (proliferate) and move (migrate) to their proper location in the brain. The SETBP1 protein is thought to control the activity of genes involved in these developmental processes.
Schinzel-Giedion syndrome is very rare, although the exact prevalence is unknown. At least 50 cases of the condition have been reported in the scientific literature.
Schinzel-Giedion syndrome results from new mutations in the SETBP1 gene and occurs in people with no history of the disorder in their family. One copy of the altered gene in each cell is sufficient to cause the disorder.
Rocco Piazza practices practicing medicine in Monza, Italy. Mr. Piazza is rated as an Elite expert by MediFind in the treatment of Schinzel-Giedion Syndrome. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Schinzel-Giedion Syndrome, Anaplastic Large Cell Lymphoma, Chronic Myelogenous Leukemia (CML), Trichorhinophalangeal Syndrome Type 1 (TRPS1), and Bone Marrow Transplant.
Bassett Health Center Cobleskill
John Novak is a primary care provider, practicing in Internal Medicine in Cobleskill, New York. Dr. Novak is rated as an Experienced provider by MediFind in the treatment of Schinzel-Giedion Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Relapsing Multiple Sclerosis (RMS), Enlarged Prostate (BPH), Type 2 Diabetes (T2D), and Lymphangitis.
Bassett Health Center Little Falls Primary Care
Amy Grace is a primary care provider, practicing in Family Medicine in Little Falls, New York. Dr. Grace is rated as an Experienced provider by MediFind in the treatment of Schinzel-Giedion Syndrome. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Enlarged Prostate (BPH), and Glucocorticoid-Remediable Aldosteronism.
Published Date: August 01, 2019
Published By: National Institutes of Health