How is your child diagnosed?

Diagnosis

When a baby is born with MSS, you notice very quickly that something isn’t right. Their physical appearance is different from that of most babies. From the start, the newborn often has trouble breathing and feeding is very difficult. It usually takes a few more days to weeks until MSS is diagnosed.
The doctor who determines the condition (the diagnosis) is called a clinical geneticist. Firstly, this doctor will look at the visible and noticeable symptoms of MSS. You can find these symptoms here. The clinical geneticist also looks at X-rays of the bones in the hands after which the doctor can usually confirm whether or not it is MSS.

Genetic Examination

To make absolutely sure the diagnosis is correct, the clinical geneticist will also examine the genetic material (DNA research). This is done by taking a small blood sample from the child. In the blood, the geneticist looks for a change (mutation) in a certain part of the genetic material. The gene that is responsible for MSS is called NFIX.

Why is diagnosis important?

When you know your child has MSS, you can prevent certain health problems by having your child checked for symptoms that often occur with MSS. When the diagnosis is clear, you can go to the MSS centre of expertise for tests and treatment. This is the AMC in Amsterdam. The care providers at the centre of expertise have experience with other patients with MSS, both children and adults. The doctors are also informed of the latest (international) information on MSS. At your request, they can pass on their knowledge to the healthcare providers in your neighbourhood. This way it is not necessary to go to Amsterdam for all treatments and advice.