DiGeorge syndrome (22q11 deletion)
Overview
DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties.
Symptoms
DiGeorge syndrome can cause a range of problems, but most people will not have all of these. Some of the most common issues are: learning and behaviour problems – including delays in learning to walk or talk,learning disabilitiesand problems such asattention deficit hyperactivity disorder (ADHD)orautismspeech and hearing problems – including temporary hearing loss due to frequent ear infections, being slow to start talking and having a "nasal-sounding" voicemouth and feeding problems – including a gap in the top of the mouth or lip(cleft lip or palate), difficulty feeding and sometimes bringing food back up through the noseheart problems – some children and adults have heart defects from birth(congenital heart disease)hormone problems – underdeveloped parathyroid glands produce too little parathyroid hormone(hypoparathyroidism), which can lead to problems such as shaking(tremors)and seizures (fits) Other possible problems include: a higher risk of getting infections – such asear infections,oral thrushandchest infections– because the immune system (the body's natural defence against illness) is weaker than normalbone, muscle and joint problems – including leg pains that keep coming back, an unusually curved spine(scoliosis)andrheumatoid arthritisshort stature – children and adults may be shorter than averagemental health problems – adults are more likely to have problems such asschizophreniaand anxiety disorders
Causes
DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a person's DNA. In about 9 in 10 cases (90%), the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made. It is not a result of anything you did before or during the pregnancy. In these cases, there's usually no family history of DiGeorge syndrome and the risk of it happening again to other children is very small. In around 1 in 10 cases (10%), the 22q11 deletion is passed on to a child by a parent who has DiGeorge syndrome, although they may not realise they have it if it's mild.
Treatment
There's currently no cure for DiGeorge syndrome. Children and adults with the condition will be closely monitored to check for problems, and these can be treated as they happen, if needed. For example, someone with DiGeorge syndrome may have: regularhearing tests,blood tests, heart scans and measurements of their height and weightan assessment of their development and learning ability before starting school – if your child has a learning disability, they may need extra support at a mainstream school, or they may benefit from attending a special school (read more abouteducation for children with learning disabilities)speech therapy to help with speech problems and dietary changes (or sometimes a temporary feeding tube) to help with feeding problemsphysiotherapyfor problems with strength and movementtreatment from a podiatrist for foot and leg problems, and devices such as shoe inserts (orthoses) for leg painsurgery for more severe problems – for example, surgery to repair heart defects or an operation to repair a cleft palate You may find it useful to speak to a social worker, psychologist or counsellor, who you can contact directly or through a doctor. Charities such asMax Appeal!may also be a good source of support. Read more advice aboutcaring for a disabled child.