Myhre SyndromeSymptoms, Doctors, Treatments, Advances & More
Myhre Syndrome Overview
Learn About Myhre Syndrome
Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age.
Mutations in the SMAD4 gene cause Myhre syndrome. The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-β) pathway, allows the environment outside the cell to affect gene activity and protein production within the cell. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence the development of many body systems.
Myhre syndrome is a rare disorder; its prevalence is unknown. Almost 100 cases have been documented in the medical literature.
Myhre syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered SMAD4 gene in each cell is sufficient to cause the disorder.
The General Hospital Corporation
Angela Lin is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Lin is rated as an Elite provider by MediFind in the treatment of Myhre Syndrome. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Myhre Syndrome, Turner Syndrome, Undescended Testicle, Intersex, and Hormone Replacement Therapy (HRT). Dr. Lin is currently accepting new patients.
Valerie Daire-Cormier practices practicing medicine in Paris, France. Ms. Daire-Cormier is rated as an Elite expert by MediFind in the treatment of Myhre Syndrome. She is also highly rated in 107 other conditions, according to our data. Her clinical expertise encompasses Myhre Syndrome, Polydactyly, Achondroplasia, Brachydactyly Mononen Type, and Adenoidectomy.
Nicola Brunetti-Pierri is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Brunetti-Pierri is rated as an Elite provider by MediFind in the treatment of Myhre Syndrome. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Pyruvate Decarboxylase Deficiency, Crigler-Najjar Syndrome, Argininosuccinic Aciduria, and Rotor Syndrome.
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, 2020
Published By: National Institutes of Health