What is Myhre syndrome?

Myhre syndrome is a genetic condition that can be diagnosed at any age. Sometimes, the features can be overlooked or confused with another condition.

What are the signs of Myhre syndrome?

Every person who has Myhre syndrome is slightly different. Some common characteristics include:

  • Short stature (short in height)
  • Unique facial features, such as small eyes, small mouth or prominent (larger) chin
  • Intellectual disability in some people
  • Learning challenges in most people
  • Hearing loss
  • Joint problems
  • Problems with airways (windpipe) and lungs
  • Unique heart problems
  • Thickened skin

What causes Myhre syndrome?

Myhre syndrome is caused by a change in 1 copy of the SMAD4 gene. In our bodies, genes act like instruction manuals for proteins. The proteins help our bodies develop, grow and work properly.

Myhre syndrome happens by chance. It is not caused by anything a parent did or did not do. When a gene changes by chance, it is called a de novo mutation.

Is there research being done on Myhre syndrome at MGfC?

Yes. Researchers at MGfC and Massachusetts General Hospital are very excited to learn more about this rare condition. Talk with your doctor to learn more about research on Myhre syndrome.

Did you know?

Myhre syndrome is one of several medical conditions that can happen when there is a change in the SMAD4 gene. Myhre syndrome is unique because the change causes the SMAD4 gene to work more rather than slow it down. When this happens, it is called a gain-of-function mutation.