Birth defects and genetics collection
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Cerebral palsy - Learn more
Cerebral palsy (CP) is a group of conditions that affect how a person moves and controls their muscles. It is a result of damage that occurs to the brain before birth, or in the first few months after.
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Cleft lip and palate - Learn more
Cleft lip and palate are congenital conditions in which the two sides of a baby’s top lip or roof of the mouth do not join up during foetal development. Surgery is normally performed to correct the condition, usually between the ages of six months and two years.
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Developmental dysplasia of the hip - Learn more
Developmental dysplasia of the hip is a range of conditions in which the development of the hip in an infant does not occur normally. It can range from relatively mild looseness in the joint through to full dislocation of the hip.
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Down syndrome - Learn more
Down syndrome is a genetic disorder that causes physical, developmental and intellectual impairment. Not all characteristics are present in all people with Down syndrome and levels of impairment can vary greatly.
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Foetal alcohol syndrome - Learn more
Foetal alcohol syndrome may occur when an unborn child is exposed to alcohol consumed by its mother during pregnancy. The condition may have devastating effects on the development of the foetal brain and the child’s subsequent intellectual, physical and behavioural development.
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Haemochromatosis - Learn more
Haemochromatosis is a hereditary condition that causes your body to absorb too much iron from your diet. Over time it accumulates in tissues and certain organs, including your heart, liver and pancreas. If undetected and untreated, this excess iron can damage tissues and organs.
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Phenylketonuria - Learn more
Phenylketonuria (PKU) is a genetic condition that prevents the breakdown of phenylalanine, an amino acid that plays an important role in metabolism. A build-up of phenylalanine in the body can lead to an intellectual disability.
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Progeria - Learn more
Progeria is a rare genetic disorder that causes a child to age rapidly, giving them an average life expectancy of 13 years. Symptoms begin to appear in the first two years of life. It’s also known as Hutchinson-Gilford progeria syndrome, or HGPS.
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Spina bifida - Learn more
Spina bifida is a birth defect involving the spine, spinal cord and the protective covering of the spinal cord, called the meninges. It is part of a group of disorders called neural tube defects that can occur to a foetus during pregnancy.
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Talipes (club foot) - Learn more
Talipes occurs when a baby is born with a foot and ankle twisted out of shape or position. One of the more well-known forms of talipes is clubfoot (talipes equinovarus). However, there are other forms of the condition.
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Thalassaemia - Learn more
Thalassaemia is a hereditary red blood cell disorder than can cause anaemia. Individuals may notice excessive tiredness and yellowing of the skin, called jaundice. It can be treated by regular blood transfusions.
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Wilson’s disease - Learn more
Wilson’s disease is a genetic disorder that results in the abnormal accumulation of copper in the body, which, if left untreated, can be fatal. Treatment is lifelong but effective, involving a low-copper diet as well as steps to reduce accumulated copper in the body.