DiGeorge syndrome is a condition you are born with. It can cause a range of lifelong problems, including heart defects and learning difficulties.
The condition affects people in different ways. Some children can be severely ill. Others may grow up without realising they have it.
The condition is caused by a problem with a person's genes, called 22q11 deletion. It is not usually passed on to a child by their parents, but it can be in some cases.
DiGeorge syndrome can be diagnosed soon after birth with a blood test to check for the genetic fault.
Symptoms of DiGeorge syndrome
DiGeorge syndrome can cause a range of problems, but most people will not have all of these.
Some people are diagnosed after birth because of medical complications. Others are diagnosed because of learning or mental health difficulties later in life.
Common issues can include:
- learning problems - for example, difficulties with reading, writing and maths
- behavioural problems - for example, difficulties with social interaction and managing emotions
- speech and hearing problems - including temporary hearing loss or having a nasal-sounding voice
- feeding problems - including a gap in the top of the mouth or lip (cleft lip or palate)
- heart problems - many children and adults have congenital heart disease (heart defects from birth)
- hormone problems - these can lead to symptoms such as shaking (tremors) and seizures (fits)
Learning and behaviour problems
These can include:
- learning disabilities
- delays in learning to walk or talk
- attention deficit hyperactivity disorder (ADHD)
- autism
Speech and hearing problems
These can include:
- being slow to start talking
- having a nasal-sounding voice
- temporary hearing loss caused by frequent ear infections
Feeding problems
These can include:
- difficulty feeding
- sometimes bringing food back up through the nose
- a gap in the top of the mouth or lip (cleft palate or cleft lip)
Ear, nose and throat problems
Adults and children with DiGeorge syndrome often have ear, sinus, and chest infections. Hearing problems are also common.
Many children have airway problems and weakness of muscles for swallowing and speaking.
Heart problems
Some children and adults may be born with heart conditions (congenital).
Hormone problems
Some children and adults may have problems if their body does not make enough of a certain hormone.
The thyroid gland, which regulates metabolism, is often affected.
The person may have an overactive or underactive thyroid. Some children have short stature and may not have enough growth hormone.
If a child's parathyroid glands do not develop properly, they produce too little of the parathyroid hormone.
This is called hypoparathyroidism and can lead to problems such as:
- shaking (tremors)
- seizures (fits)
Some people develop diabetes later in life.
Higher risk of getting infections
The immune system (the body's natural defence against illness) is weaker than normal.
This can cause:
Bone, muscle and joint problems
These can include:
- leg pains that keep coming back
- a curved spine (scoliosis)
- arthritis
- clubfoot
- extra digits
- dislocation of kneecap (patella)
Mental health difficulties
Adults are more likely to have mental health difficulties such as:
- attention deficit hyperactivity disorder (ADHD)
- autism
- psychosis
- schizophrenia
- anxiety
Eye problems
Eye problems include:
- being long or short sighted
- astigmatism - a treatable problem with the eye's cornea or lens
- keyhole iris (coloboma)
Blood problems
It is common to have a low platelet count. This can cause blood clots.
Kidney problems
Some people will have abnormal kidneys, or a single kidney. Boys may have undescended testicles.
Gut problems
Gut problems can include:
- gut abnormalities
- imperforate (blocked) anus
- constipation
Dental problems
These are common and may include:
- delayed eruption of teeth
- problems with enamel
- risk of tooth decay