Glossary

A long-term condition where the rectum and colon become inflamed which can lead to ulcers in the colon lining which bleed and produce pus.

Symptoms include blood, pus or mucus in recurring diarrhoea, pain in the tummy and the need to empty your bowels frequently as well as fatigue, weight loss and loss of appetite.

A long-term condition where the rectum and colon become inflamed which can lead to ulcers in the colon lining which bleed and produce pus.

Symptoms include blood, pus or mucus in recurring diarrhoea, pain in the tummy and the need to empty your bowels frequently as well as fatigue, weight loss and loss of appetite.

A rare condition which severely weakens the muscles soon after birth and stiffens joints in the knees and elbows.

Ullrich congenital muscular dystrophy is caused by mutations in a number of genes (COL6A1, COL6A2 and COL6A3).

Symptoms include abnormality of the palate and increased wrist mobility.

A rare condition caused by either an extra piece of chromosome and/or a missing piece of another chromosome.

Unbalanced chromosome translocation can cause learning disabilities, developmental delay and additional health complications.

The seriousness of the condition depends on which chromosomes have been affected and how much or how much chromosome material there is.

Also known as UHS, uncombable hair syndrome was first reported in the 20th century and characterized by silvery, dry, frizzy hair which is impossible to comb.

The condition becomes apparent between the ages of 3 months and 12 years.

The main symptoms of Usher syndrome are hearing loss and an eye disorder called retinitis pigmentosa which causes night-blindness and a loss of peripheral vision.

The condition can also affect a person’s balance.