Wiedemann-Rautenstrauch SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Wiedemann-Rautenstrauch Syndrome
Wiedemann-Rautenstrauch syndrome is a type of progeria. People with progeria have certain features that make them look older than they are. The signs and symptoms of Wiedemann-Rautenstrauch syndrome begin before birth as affected individuals do not grow and gain weight at the expected rate (intrauterine growth restriction).
Wiedemann-Rautenstrauch syndrome is caused by variants (also called mutations) in the POLR3A gene. This gene provides instructions for making the largest piece (subunit) of an enzyme called RNA polymerase III. This enzyme is involved in the production of RNA, a chemical cousin of DNA. RNA polymerase III helps produce several forms of RNA, including those that assemble protein building blocks (amino acids) into proteins. This process is essential for the normal functioning and survival of cells in tissues throughout the body.
Wiedemann-Rautenstrauch syndrome is a rare disorder, though its exact prevalence is unknown. Fewer than 100 affected individuals have been described in the scientific literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Trinity Clinic
Erik Garza is a primary care provider, practicing in Family Medicine in San Antonio, Texas. Dr. Garza is rated as an Experienced provider by MediFind in the treatment of Wiedemann-Rautenstrauch Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Cirrhosis, Familial Combined Hyperlipidemia, Xanthoma, and Familial Hypertension. Dr. Garza is board certified in American Board Of Family Medicine. Dr. Garza is currently accepting new patients.
Germantown Health Center
Amy Miller is a primary care provider, practicing in Family Medicine in Germantown, Wisconsin. Dr. Miller is rated as an Experienced provider by MediFind in the treatment of Wiedemann-Rautenstrauch Syndrome. She is also highly rated in 54 other conditions, according to our data. Her clinical expertise encompasses Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and High Cholesterol. Dr. Miller is board certified in Family Medicine. Dr. Miller is currently accepting new patients.
MUSC Health Neurosurgery At North Area Medical Pavilion
Sunil Patel is a Neurosurgery provider practicing medicine in North Charleston, South Carolina. Dr. Patel is rated as an Advanced provider by MediFind in the treatment of Wiedemann-Rautenstrauch Syndrome. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Glioblastoma, Astrocytoma, Trigeminal Neuralgia, Laminectomy, and Awake Craniotomy. Dr. Patel is currently accepting new patients.
Published Date: November 12, 2024
Published By: National Institutes of Health