Glossary of terms used on this site

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Term Definition
Ear pits

Ear pits (preauricular pits) are often a rather subtle finding on physical exam. They are located at the superior attachment of the pinna to the face and may be unilateral or bilateral.


A recording of the electrical activity of the heart.


Containing structures that reflect high-frequency sound waves and thus can be imaged by ultrasound. When certain organs appear echogenic (e.g. bowel during an anomaly scan in pregnancy) it may be an indicator of a condition that requires further investigation.

Ectodermal Dysplasia (ED)

Ectodermal Dysplasia (ED) is not a single disorder, but a group of closely related conditions of which more than 150 different syndromes have been identified. The Ectodermal Dysplasias (Eds) are genetic disorders affecting the development or function of the teeth, hair, nails and sweat glands.

Edwards syndrome

Edwards syndrome is a condition that causes severe physical and mental abnormalities; it is the result of an extra chromosome known as trisomy 18


Electroencephalogram (EEG) records the electrical activity of the brain. It is a useful test to help diagnose epilepsy.

Elastic fibres

Elastic fibres that are a mixture of proteins and collagen (a tough, flexible type of protein).


Having to do with the nerves or the nervous system.

Empiric risk

A risk figure for a person being affected with a (usually) multifactorial disorder, obtained by observation and experience of many families where people have that disorder. These recurrence risks are based upon observations obtained from family studies rather than theoretical principles.


An endocrinologist is a doctor specialising in hormone conditions


An endoscopy is a procedure where the inside of the body is examined internally using an endoscope which is a thin, long, flexible tube that has a light source and a video camera at one end. Images of the inside of your body are relayed to an external television screen.

Endoscopes can be inserted into the body through a natural opening, such as through the throat or anus. Alternatively, it can be inserted through a small surgical incision that is made in the skin.


ENT – abbreviation: Ear, Nose and Throat


Enzymes are proteins that speed-up and control chemical reactions, such as digestion, in the body.

enzyme therapy

Enzyme therapy is the use of enzymes to treat deficiencies and other medical conditions in the body.

epicanthic folds

vertical skin folds (epicanthic folds) between the upper eyelids and inner corner of the eye

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