Birth defects

During fetal development, the diaphragm or abdominal wall may fail to properly fuse, allowing the abdominal organs to protrude.

ASD is a complex disorder that affects a person's ability to interact with the world around them.

Folic acid taken before conception, and during at least the first 4 weeks of pregnancy, can prevent around 7 out of 10 cases of neural tube defects.

Most cleft palates and cleft lips can be repaired so that appearance and speech develop normally.

Congenital adrenal hyperplasia (CAH) can affect a child's normal growth and development, including normal growth of the genitals.

Some congenital heart defects are mild and cause no significant disturbance to the way the heart functions.

Most children born with cri du chat syndrome have moderate intellectual disability, with varying degrees of speech delay and some health problems.

Around 95 per cent of babies born with developmental dysplasia of the hip can be successfully treated.

Too much amniotic fluid surrounding the baby during pregnancy (polyhydramnios) may indicate the presence of defects of the digestive tract.

With the support and opportunities available to them today, most people with Down syndrome are able to achieve and participate as valued members of their community.

Dwarfism refers to a group of conditions characterised by shorter than normal skeletal growth.

The World Health Organization recommends that pregnant women should avoid alcohol.

The facts about fragile X syndrome are complicated, and parents and family members are invited to ask their doctor to refer them to a genetics clinic.

All children with severe haemophilia are given preventative treatment with infusions of blood products before they have a bleed.

Kabuki syndrome affects males and females equally and there is no cure.

Neurofibromatosis is caused by faulty genes, which may be inherited or have spontaneously mutated at conception.

Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features.

PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods.

A feature of Prader-Willi syndrome is the child's excessive appetite, which often leads to obesity.

Folate can prevent up to 70 per cent of spina bifida cases if taken daily for one month before conception and during the first three months of pregnancy.

Syringomyelia is the growth of a cyst in the spinal cord that may result in paraplegia or quadriplegia if not treated.

Tay-Sachs disease is a serious genetic disorder common in Ashkenazi Jews and French-Canadians.

Thalassaemia is an inherited blood disorder that can cause anaemia or death if not treated.

Treacher Collins syndrome is a genetic disorder that affects growth and development of the head, causing facial defects and hearing loss.

Children affected by trisomy usually have a range of birth defects, including delayed development and intellectual disabilities.

Common birth defects of the urinary system include hypospadias, obstructive defects of the renal pelvis and renal agenesis.

Williams syndrome often goes undiagnosed, which means that some people with the disorder fail to get the support and treatment they need until later in life.