What is DiGeorge syndrome?
DiGeorge syndrome is a genetic condition that some people are born with. It can cause learning delays or a
learning disability
A learning disability is to do with the way someone's brain works. It makes it harder for someone to learn, understand or do things.
, as well as physical problems throughout a person’s life.
What causes DiGeorge syndrome?
DiGeorge syndrome is caused by a small piece missing from the DNA that makes up a person’s genetic coding.
10% of the time this is inherited from a parent who has DiGeorge syndrome. 90% of the time it is caused by either the sperm or egg that made up the person missing the piece of DNA. This happens purely by chance and isn’t caused by something the parents did or didn’t do.
How does DiGeorge syndrome affect someone?
DiGeorge syndrome affects everyone differently and it’s hard to know how serious the condition will be. It can make some children very ill, but others may grow up without realising they have it. Adults with DiGeorge syndrome often live independent lives.
DiGeorge syndrome can often cause people to have:
- Learning delays or learning disability: People with DiGeorge syndrome may not reach
certain
Certain means you are sure about something.
development benchmarks as quickly as their peers. They may also have a learning disability, which is a reduced intellectual ability and difficulty with certain everyday activities. - Learning difficulties: Many people with DiGeorge have developmental disabilities. These can make it harder for them to learn, can affect their behaviour and moods, and can cause them problems when socialising and communicating. Examples of these are: Attention deficit hyperactivity disorder (ADHD) and Autism Spectrum Disorder (ASD).
- Problems with speech and hearing: People with DiGeorge syndrome are more likely to get frequent ear infections that might cause issues hearing. Their learning difficulties or disability may also make it take longer for them to learn to talk.
- Problems with their mouth and eating: People with DiGeorge are likely to have cleft lip or palate. They also may have difficulties eating, such as bringing food back up through their nose
- Heart problems: Heart defects such as congenital heart disease are more common for people with DiGeorge Syndrome.
- Hormonal issues: People with DiGeorge syndrome may have an underdeveloped gland called the parathyroid, meaning it produces less hormone than it should. This can cause the person to suffer from shaking and fits.
Some other problems might include:
- Higher infection risk: People with DiGeorge syndrome are more prone to infections such as ear infections, oral thrush and chest infections
- Musculoskeletal problems: DiGeorge syndrome can often cause bone, muscle and joint problems that can develop at any stage of the person’s life.
- Mental health issues: Adults who have DiGeorge syndrome are more likely to develop problems with their mental health such as schizophrenia and anxiety disorders.
Living with DiGeorge syndrome
There's no cure yet for DiGeorge syndrome but people with the condition might benefit from:
- Regular health checks
- Speech therapy
- Changes to what they eat
- Physiotherapy
- Treatment from a podiatrist
- Surgery for more severe problems.
Find out about these treatment options and, if you think they would benefit you or someone with DiGeorge syndrome, ask your doctor.
Where to get help and support about DiGeorge syndrome
You can get support from a
social worker
A social worker is someone who can help you get the support you need. Social workers usually work for your local council.
, psychologist or counsellor – ask your doctor.
Max Appeal! also offer advice and support.
Questions and answers about DiGeorge syndrome
There's no cure yet for DiGeorge syndrome but people with the condition might benefit from:
- Regular health checks
- Speech therapy
- Changes to what they eat
- Physiotherapy
- Treatment from a podiatrist
- Surgery for more severe problems.
Find out about these treatment options and, if you think they would benefit you or someone with DiGeorge syndrome, ask your doctor.
DiGeorge syndrome is a genetic condition that some people are born with. It is caused by a small piece missing from the DNA that makes up a person’s genetic coding. 10% of the time this is inherited from a parent who has DiGeorge syndrome. 90% of the time it is caused by either the sperm or egg that made up the person missing the piece of DNA. This happens purely by chance and isn’t caused by something parents did or didn’t do.
DiGeorge syndrome affects everyone differently and it’s hard to know how serious the condition will be. It can make some children very ill, but others may grow up without realising they have it. Adults with DiGeorge syndrome often live independent lives.
DiGeorge syndrome is a genetic condition that some people are born with. It can cause learning delays or a learning disability, as well as physical problems throughout a person’s life. There's no cure yet.
More conditions linked with Learning Disability
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