What is fragile X syndrome?
Fragile X syndrome is a genetic condition that causes developmental delays and cognitive impairment.
It is the most common cause of inherited intellectual disability in males.
Females with fragile X syndrome usually have milder symptoms.
What causes fragile X syndrome?
Fragile X syndrome is caused by a mutation in a gene that plays a role in the development of synapses, which are connections between nerve cells.
When this gene is mutated, it prevents the production of a protein known as FMRP.
FMRP is important for the normal functioning of the nervous system, and its absence can lead to a variety of developmental and cognitive issues.
What are the symptoms of fragile X syndrome?
When the nervous system is disrupted by the lack of FMRP being produced, it can cause:
- Delayed speech and language
- Anxiety and depression
- Impulsive actions
- Attention deficit disorder
Physical features can include:
- Long and narrow face
- Large ears
- Prominent jaw and forehead
- Flexible joints
- Soft skin
If you are concerned that your child may have fragile X syndrome, it is important to see a doctor for a diagnosis.
