Question: How many people are affected by Myhre syndrome ?
Answer: Myhre syndrome is a rare disorder. Only about 30 cases have been documented in the medical literature. For reasons that are unknown, most affected individuals have been males.
Source: GHR

Question: What are the genetic changes related to Myhre syndrome ?
Answer: 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-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.
Source: GHR

Question: What are the treatments for Myhre syndrome ?
Answer: These resources address the diagnosis or management of Myhre syndrome: - Centers for Disease Control and Prevention: Types of Hearing Loss - Genetic Testing Registry: Myhre syndrome - National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and Hard-of-Hearing Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR