Families

What is Myhre Syndrome?
Myhre Syndrome is a rare genetic condition caused by changes in the SMAD4gene. The main signs of the condition include distinct facial features, short stature, joint problems, intellectual disability, and heart issues. People with Myhre syndrome may also have hearing loss, difficulty breathing, and problems with movement. While Myhre syndrome was once thought to be a fatal condition for newborns, many people with the condition now live into adulthood thanks to better medical care.

How common is Myhre Syndrome?
Myhre syndrome is very rare, and there isn’t an exact number of how many people are affected worldwide. It is estimated to affect about 1 in 800,000 individuals.

Inheritance
Myhre syndrome is inherited in an autosomal dominant way. This means that if one parent has the condition, there is a 50% chance they can pass it on to their child. Sometimes, the condition can occur in a child even if neither parent has the mutation, as it can happen spontaneously.

How to diagnose Myhre Syndrome?
Since Myhre syndrome is a genetic disorder, diagnosis is made by showing the change in the SMAD4gene from a blood sample taken from the patients.

Management
There is no cure for Myhre syndrome, so treatment focuses on managing the symptoms. People with Myhre syndrome may need different types of care, such as physical therapy for joint problems and heart treatments for cardiovascular issues. Early support programs for physical and developmental help can improve a person's quality of life.