Glossary
Attention deficit disorder: a range of behavioral problems in children with symptoms like low levels of concentration, hyperactivity, restlessness and learning difficulties.Autosomal dominant: is a way of passing on disorder traits within a family. An autosomal dominant disease implies that a single abnormal gene or deleted genetic region from one parent is enough to express the disease.
Congenital heart defects (CHD): develop before birth and affect the heart’s chambers, valves or blood vessels.
Corticosteroids: are human-made drugs that mimic natural cortisol function. Cortisol is naturally produced in human adrenal glands. Corticosteroids are given to treat inflammatory conditions like rheumatoid arthritis and other immune system issues.
Endocrine disorders: refer to failure of endocrine glands in the body to produce normal amounts of hormone. It can result in overproduction or underproduction of hormones.
Hernias: a condition where connective tissue is damaged and underlying organs protrude through the defect.
Hyperacusis: a condition characterized by over-sensitivity to a range of frequency and volume of sounds.
Hypercalcemia: a condition where the calcium level in the blood is high. This can weaken the bones, create kidney stones and interferes with heart and brain function.
Hypodontia: a dental condition where the person fails to develop adult-size teeth as in Williams syndrome where individuals have small-size teeth. Hypodontia also means missing up to five permanent teeth.
Scoliosis: is a condition where the spine bends to the side abnormally. It is usually treated with back braces or surgery in some cases. If untreated it can lead to heart, lungs and spinal cord damage.
Supravalvar aortic stenosis: congenital obstructive narrowing of the aorta above the aortic valve. This is an example of CHD.
