What is Myhre Syndrome ?

Every person who has Myhre Syndrome presents with different features, although some of the more common features are,

• Short stature

• Distinct facial features, such as small deep, set eyes underdeveloped mid-face small mouth with thin lips prominent chin

• Learning difficulties

• Hearing loss

• Limited joint mobility

• Respiratory issues, congenital/acquired

• Cardiovascular issues, congenital/acquired

• Excessive scar tissue, through trauma, but can also occur spontaneously

Every case of Myhre Syndrome is unique, and you/your child may not have all of the symptoms listed above. The treatment of Myhre syndrome is directed toward the specific symptoms that are present in each individual. Therefore, a coordinated care plan is essential, some of the departments you may become familiar with (include but, not limited to)

• Cardiology (ideally annually)

• Respiratory 

• Geneticist

• Orthopaedics

• ENT (Ears, Nose & Throat)

• Ophthalmology

• Endocrinology

• Gastroenterology

• Nephrology

• Audiology 

• Physiotherapy 

• Speech & Language Therapy

Early diagnosis and intervention with regular follow ups are essential to adults and children living with Myhre Syndrome.

As Myhre Syndrome was first reported in 1981, to date there is little research done to date.

The good news is that every time an adult is diagnosed with Myhre Syndrome, the parents of the younger children and adolescents find a lot of comfort and hope in learning of their journey so far.

Often with Myhre Syndrome, there are co-existing diagnosis’s alongside, for example, Autism (here in the UK, we have a number children that are diagnosed as having Autistic Traits but haven’t met the full criteria for a diagnosis of Autism), Attention Deficit Hyperactivity Disorder (ADHD), Sensory Processing Disorder & Developmental Delays, and obviously these will impact on how the future looks, however they won’t impact on the way that Myhre Syndrome develops.

Myhre Syndrome falls under the category of Ultra-Rare, in Europe a rare disease is defined as one that affects less than 1 person in 2,000. Worldwide, as of March 2022, there are approximately 200 diagnosed with Myhre Syndrome.

The big question is always life expectancy, again this comes around to lack of research, but as mentioned earlier, we know of many adults living with Myhre Syndrome. A number of these adults having an active role in the Myhre community, who are married, live independently and have left school, gone through college, and even been to university and gone on to have really successful careers.

They key to the best future the earliest possible intervention, if you/your child has recently been diagnosed, they are likely undergoing a lot of baseline assessments for their heart, lungs, hormones, hearing... These tests and assessments will map out the medical care that you/your child will receive for the rest of their lives. 

We are here to support you, receiving a diagnosis of Myhre Syndrome can bring a wave of emotions, not one of these emotions are right or wrong, we have all been there, often becoming overwhelmed with information, our best advice is to take a break every now and again. Many people have never heard of Myhre Syndrome, even Doctors, don’t be surprised if during a consultation the doctor ‘googles’ Myhre Syndrome in front of you, yes believe it or not this does happen. 

When you are ready, head over to over to the Library section to learn more, access the Myhre Syndrome Glossary, a very useful tool, you will also find Clinical Reports, useful Printouts to hand to Doctors, Educators and other Professionals.

Myhre Syndrome is a genetic mutation. A Mutation occurs when a gene is damaged or changed in such a way as to alter the genetic message carried by that gene.

Genes are what make up our DNA. Genes act like a user guide, genes decide which colour your eyes will be, if your hair will be curly or straight, some of these genes also help our bodies to develop, grow and work properly.

Myhre Syndrome is caused by a genetic mutation, within a gene called SMAD4. The SMAD group are critically important for regulating cell growth and development. 

Myhre Syndrome is quite unique, compared to other gene mutations. Most mutations cause a ‘loss of function’ but Myhre Syndrome causes a ‘gain of function’.

Our Library, which will be regularly updated, will help you learn more.

The simple answer is NO. Myhre syndrome happens by chance, during conception. Nothing can be done to prevent it. Myhre is not caused by the parents, nothing that you did or didn’t do, before or during pregnancy would have changed anything. When a gene changes by chance, it is called a De Novo mutation. 

Definition of: 

De Novo - Latin for ‘new’

Currently no cure is known to exist, however research is growing across the world. Research involvement is one of Myhre Syndrome UK & Europe’s main goals.