Diagnosis
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Marshall-Smith syndrome.
How is it figured out what your child has?
When a baby with MSS is born, you quickly notice that something is not right. The appearance is different from that of most babies. Often, a newborn also has immediate breathing problems and feeding is not going well.
The doctor who diagnoses the condition (the diagnosis) is called a clinical geneticist. In doing so, this doctor first pays attention to the immediately visible and noticeable features of MSS. The clinical geneticist also looks at photographs of the bones in the hands (radiographs). After this, it is usually clear to the doctor whether it is MSS or not.
Genetic testing
To be really sure that the diagnosis is correct, the clinical geneticist does further research into hereditary material (DNA testing). This is done by taking a little blood from the child. In the blood, they look for a change (a mutation) in a certain part of your hereditary material (gene). The gene responsible for MSS is called NFIX.
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