Glossary

A condition which causes swelling of the blood vessels in the heart which can lead to a rash, swollen hands and feet, swollen lymph glands and high fever.

The illness can weaken or damage the coronary arteries which supply the heart with blood which can lead to heart failure, aneurysms or heart attacks.

KCNQ2 is a gene associated with the proper functioning of a potassium channel in the brain. Any changes to the gene are linked with epilepsy.

Seizures related to KCNQ2 can range from mild to severe. In 1998 the condition was associated to a mild illness called “Benign Familial Neonatal Epilepsy” – when a new born baby suffers from seizures, although the attacks stop after a few months.

Over the years further research has revealed KCNQ2 can cover a wide range of epilepsy including KCNQ2 encephalopathy, KCNQ2-related neonatal epileptic encephalopathy, KCNQ2-deficiency syndrome, and KCNQ2-related epilepsy.

Sometimes called KS or XXY, Klinefelter syndrome is when a baby boy with an extra X chromosome.

Chromosomes identify the sex of a child, they fall into two categories, X and Y.

In usual circumstances a baby girl is born with 2 X chromosomes (XX) and a baby boy with one of each (XY). Babies born with Klinefelter syndrome have an extra X chromosome (XXY) but are still genetically male.

Klinefelter syndrome rarely causes problems, but in some cases the male may require treatment as it could make babies quieter than usual, in childhood the condition can affect their confidence, trouble expressing emotions and mild dyslexia.

As teenagers they may develop broad hips, poor muscle tone, a small penis and testicles, enlarged breasts and reduced facial and body hair.

In adulthood people with the condition may have a low sex drive and the inability to have children naturally.

The condition affects 1 in every 660 males.

Males with Klinefelter’s Syndrome are born with an extra X chromosome. Babies with the condition may learn to sit up, crawl, talk and walk later than normal.

During childhood they could become shy and diagnosed with dyslexia – they may also experience low energy levels.

Teenagers with Klinefelter’s may finish growing later than usual forming long arms and legs.

They may also have the inability to become natural fathers.

Klinefelter’s Syndrome affects 1 in 660 males.

Named after two French doctors Klippel Trenaunay Weber Syndrome affects the development of blood vessels, soft tissues and the bones. The condition has three characteristics, a red birthmark (called a port-wine stain), abnormal overgrowth of soft tissues and bones, and malformations of the veins.

Also known as Kleine-Levin Syndrome and Sleeping Beauty syndrome the rare sleeping disorder is characterized by recurring periods of excessive sleep.

Patients with KLS can also experience hypersexuality (increased sexual urges) and hyperhagia (excessive food eating).