profitssraka.blogg.se - Diogenes syndrome symptoms

There's currently no cure for DiGeorge syndrome. Treatment and support for DiGeorge syndrome

pre-implantation genetic diagnosis – a type of IVF where eggs are fertilised in a laboratory and embryos are tested for genetic problems before they're implanted in the womb (this is not always available on the NHS).

having tests during pregnancy ( chorionic villus sampling or amniocentesis) to check if your baby has the genetic problem that causes the condition – although this cannot show how severely your child will be affected.

having a blood test to check if you or your partner carry the genetic problem that causes DiGeorge syndrome.

They may refer you for a genetic test and talk about your level of risk and discuss your options. Speak to a GP if you're planning a pregnancy and you have a family history of DiGeorge syndrome, or you have a child with it. If 1 parent has the condition, they have a 1 in 2 (50%) chance of passing it on to their child. If neither parent has DiGeorge syndrome, the risk of having another child with it is thought to be less than 1 in 100 (1%). What are the chances of my next child having DiGeorge syndrome? 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. 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.

It is not a result of anything you did before or during the pregnancy. This can happen by chance when sperm and eggs are made. In about 9 in 10 cases (90%), the bit of DNA was missing from the egg or sperm that led to the pregnancy. This is where a small piece of genetic material is missing from a person's DNA. mental health problems – adults are more likely to have problems such as schizophrenia and anxiety disordersĭiGeorge syndrome is caused by a problem called 22q11 deletion.

short stature – children and adults may be shorter than average.bone, muscle and joint problems – including leg pains that keep coming back, an unusually curved spine (scoliosis) and rheumatoid arthritis.a higher risk of getting infections – such as ear infections, oral thrush and chest infections – because the immune system (the body's natural defence against illness) is weaker than normal.hormone problems – underdeveloped parathyroid glands produce too little parathyroid hormone (hypoparathyroidism), which can lead to problems such as shaking (tremors) and seizures (fits).heart problems – some children and adults have heart defects from birth (congenital heart disease).mouth 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 nose.speech and hearing problems – including temporary hearing loss due to frequent ear infections, being slow to start talking and having a "nasal-sounding" voice.learning and behaviour problems – including delays in learning to walk or talk, learning disabilities and problems such as attention deficit hyperactivity disorder (ADHD) or autism.Symptoms of DiGeorge syndromeĭiGeorge syndrome can cause a range of problems, but most people will not have all of these. It's often diagnosed soon after birth with a blood test to check for the genetic fault.

It is not usually passed on to a child by their parents, but it is in a few cases. Some children can be severely ill and very occasionally may die from it, but many others may grow up without realising they have it.ĭiGeorge syndrome is caused by a problem with a person's genes, called 22q11 deletion. DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties.