Myhre syndrome (MYHRS)

What is Myhre syndrome (MYHRS)?

This rare disease is incredibly rare, with less than 100 recorded cases worldwide to dare.

Although it is believed many cases go undiagnosed and that the number of recognised cases continues to increase due to improved awareness and testing.

The main features of the syndrome include unique facial features, and intellectual disability.

What gene changes cause Myhre syndrome (MYHRS)?

Mutations to the SMAD 4 gene are responsible for the syndrome. The condition may be inherited or occur as the result of a de novo mutation. Most of the cases reported are due to a sporadic mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

When inherited it is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Myhre syndrome (MYHRS)?

Intellectual and behavioral problems are common to the syndrome and many individuals also receive a diagnosis of autism or are found to be on the autism spectrum disorder. Mild to moderate intellectual disability is a widely recognized symptom.

Unique facial features of the syndrome include small, narrow eye openings, a flat face, prominent nose, a prominent jaw that becomes more prominent with age.

Other physical symptoms include short stature, skeletal abnormalities, limited joint mobility, a build of scar tissue in the skin and internal organs, lung abnormalities and heart defects relating mainly to the aora, hearing problems, largely abnormal appearing muscles, a narrowing of the voice box.

How does someone get tested for Myhre syndrome (MYHRS)?

The initial testing for Myhre syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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