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Disability Glossary

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Pallister-Killian syndrome

Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans. Pallister-Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. This leads to the development of tetrasomy 12p. Because not all cells have the extra isochromosome, Pallister-Killian is a mosaic condition.

Patau syndrome - trisomy 13 (trisomy D)

Patau syndrome, also known as trisomy 13 and trisomy D, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a nondisjunction of chromosomes during meiosis. Some are caused by Robertsonian translocations. The extra chromosome 13 disrupts the normal course of development, causing heart and kidney defects, amongst other features characteristic of Patau syndrome.[vague] Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average. Patau syndrome affects approximately one in 15,000 live births.

Phenylketonuria

Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.

Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.

Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.

Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.

Physical Disability

A physical disability is one that affects a person’s mobility and/ or dexterity. The Australian Bureau of Statistics (ABS) estimates that at least 6% of Australians over the age of five have a physical disability.Physical disabilities can be permanent, intermittent or temporary. Physical disabilities can be caused by: congenital factors; trauma/ accident; infection; degenerative disease; or chronic medical conditions. Physical disabilities vary from person to person and may include problems with balance, gait, co-ordination; dizziness, weakness, pain and paralysis. Aids such as crutches, a walking stick or a wheelchair may be used. Sometimes people with physical disabilities may have involuntary movement of the muscles. Some conditions may go into remission, others may come and go with no particular pattern or there may be gradual deterioration.