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Disability Glossary

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Edwards syndrome - Trisomy 18 (T18)

Trisomy 18 (T18) (also known as Trisomy E or Edwards syndrome) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960. It is the second most common autosomal trisomy, after Down Syndrome, that carries to term.

Trisomy 18 is caused by the presence of three – as opposed to two – copies of chromosome 18 in a fetus or infant's cells. The incidence of the syndrome is estimated as one in 3,000 live births. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders

Epidermolysis bullosa dystrophica or Dystrophic EB

Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.

Epilepsy

Epilepsy occurs in 1–2 per cent of the population. The few known causes of epilepsy include birth trauma, head injury, brain infection, lack of oxygen to the brain such as a near-drowning.

A seizure is a sudden increase in the electro- chemical activity in the brain.There are three main types of seizures: a)Tonic clonic—where the person falls, becomes stiff, jerks and is unresponsive b) Absence seizure—where the person will have brief periods of looking blank, staring and is unresponsive (often confused with daydreaming) c) Complex partial seizure—where the person loses awareness but not consciousness; they are unaware of what they are doing and may carry out tasks such as walking, lip smacking or picking at their clothes.