Coffin-Lowry SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Coffin-Lowry Syndrome
Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.
Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. This gene provides instructions for making a protein that is involved in signaling within cells. Researchers believe that this protein helps control the activity of other genes and plays an important role in the brain. The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells. Gene mutations result in the production of little or no RPS6KA3 protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin-Lowry syndrome.
The incidence of this condition is uncertain, but researchers estimate that the disorder affects 1 in 40,000 to 50,000 people.
This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males (who have one X chromosome in each cell) experience more severe signs and symptoms of the disorder than females (who have two X chromosomes in each cell). A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Abingdon Internal Medicine
Jennifer Jonkers is a primary care provider, practicing in Internal Medicine in Abingdon, Virginia. Dr. Jonkers is rated as an Experienced provider by MediFind in the treatment of Coffin-Lowry Syndrome. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Lung Metastases, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma. Dr. Jonkers is board certified in .
ETSU Physicians & Associates- Pediatrics
Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Coffin-Lowry 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.
Corewell Health Lakeland Hospitals Neurology Royalton
Robert Ward is a Neurologist practicing medicine in Saint Joseph, Michigan. He has been practicing medicine for over 40 years. Dr. Ward is rated as an Advanced provider by MediFind in the treatment of Coffin-Lowry Syndrome. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Autosomal Dominant Partial Epilepsy with Auditory Features, Axillary Nerve Dysfunction, Seizures, and Memory Loss. Dr. Ward is board certified in American Osteopathic Board Of Neurology & Psychiatry and American Osteopathic Board Of Neurology & Psychiatry. Dr. Ward is currently accepting new patients.
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: February 01, 2016
Published By: National Institutes of Health