Glossary of medical terms
This glossary has been compiled as an aid to understanding the complex medical terminology associated with Patau’s Syndrome and Edward’s Syndrome. The Glossary should only be used for the clarification of information already provided by a doctor. If any item raises questions in the mind of parents, they should seek further discussion with their medical advisers.
ABDOMEN The area between the diaphragm and the pelvis enclosing the stomach, spleen, pancreas, liver, gall bladder, kidneys, intestines, urethras and bladder.
Periods of interrupted breathing or breath holding.
Pertaining to hearing.
AUDITORY BRAINSTEM¬EVOKED RESPONSE
Determines if hearing system can transmit information about sounds to the brain.
The term used to donate any of the paired chromosomes – excepting the sex chromosomes.
Permanent bending of a finger or fingers.
Pertaining to the heart.
“Building blocks” of body tissue.
The part of the brain which is concerned with movement and muscle tone.
The outer of the three tissue membranes which enclose the foetus during pregnancy.
Curving round of a finger or fingers, most commonly in the fifth finger.
A congenital gap in one of the structures of the eye – usually applied to the lens, retina, iris or lid.
Present at birth.
The testes have not descended to the scrotum.
A blueness of the skin, commonly occurring on the lips, tips of the ears; fingers and toes. It is a sign that the blood is not receiving sufficient oxygen in the lungs or that the circulation of the blood is impaired.
Fusion of the eyes.
The science of chromosome analysis.
Ridged patterns of the fingers, palms, toes and soles of the feet. Unusual patterns may suggest a chromosomal abnormality.
The heart is on the right side of the chest.
A finger or toe.
The dome¬ shaped muscular partition which separates the cavity of the abdomen from that of the chest.
The abbreviation for deoxyribonucleic acid, the essential “building blocks” for all genetic material.
(Electrocardiogram) An electrical recording of the action of the heart.
(Electroencephalogram) A system of recording the rhythmic waves of electric energy discharged by the nerve cells in the brain.
The term used to describe the foetus in the womb, prior to the end of the eighth week.
A sudden discharge of energy from the brain, resulting in convulsions and mild to severe changes in the level of consciousness.
The process in which the female sex cell (egg) is impregnated by the male sex cell (sperm).
Creases upon the palm of the hand, sole of the foot and digits.
The unborn baby after the eighth week of pregnancy.
A sex cell – an egg or sperm. When two gametes unite the result is termed a “zygote”.
Splashing or rising of food and stomach acids from the stomach to the oesophagus.
A method of feeding through a tube permanently inserted through the abdomen.
One of the 50,000 to 100,000 codes which direct development and function. Different genes govern different features.
The study of heredity, characteristics and development.
The period of pregnancy.
A convulsive epileptic attack of the more severe type.
A swelling consisting of abnormal blood vessels.
The colouring matter of the red blood cells, which gives blood its colour.
Transmission of characteristics from parents to their offspring.
Protrusion of an organ or part of an organ into, or through, the wall of the cavity in which it is situated.
Failure of the forebrain to divide properly.
Excessively curved outwards or spoon shaped.
An increased degree of tone or tension, usually applied to muscle.
Lack of muscle tone: floppiness.
Faulty distribution of cerebral-spinal fluid, usually resulting in a large head because of fluid accumulation.
A type of infantile spasm, characterised by a high-voltage wave pattern on an electroencephalogram.
Within the uterus.
The photograph of a set of chromosomes arranged in order.
(“q” arm) Lower long arm of chromosome.
A small head.
An abnormally small jaw.
Abnormal smallness of one or both eyes.
Absence of a whole chromosome or arm of a chromosome.
A hernial protrusion of the spinal cord and its meninges through a defect in the vertebral canal.
A surgical procedure which creates a functioning valve at the bottom of the oesophagus. This prevents the stomach contents from splashing into and up the oesophagus.
The failure of chromosome pairs to separate correctly during division, resulting in an abnormal number of chromosomes in the cells.
Pertaining to the eye.
Swelling due to an accumulation of fluid in the tissues.
The canal down which food and drink is conveyed from the mouth to the stomach via the throat.
Protrusion of the intestines through the abdomen of the infant at the umbilical cord, usually covered by a thin membrane.
Pertaining to the eye.
The branch of medicine concerned with childhood illness.
The roof of the mouth. The hard palate is at the front of the mouth and is composed of bone. The soft palate is at the back of the mouth and is composed of muscle.
Pertaining to the palm of the hand.
Around the time of birth, immediately before, during or after birth.
A convulsive epileptic attack of a minor nature.
The substance of both kidneys is largely replaced by numerous cysts.
One or more extra fingers or toes.
A backward flow or regurgitation.
Of the kidneys.
ROCKER BOTTOM FEET
An abnormality of the feet in which the soles curve outwards, rather than inwards – giving them a rocker appearance.
Curvature of the spine.
The “X” and “Y” chromosomes which determine the sex of an individual.
XX = Female, XY = Male.
(“p” arm) Upper short arm of chromosome.
Children of the same parents i.e. brothers and sisters.
An abnormal palm crease found in about five per cent of the normal population, but also found in Down’s syndrome and other chromosomal disorders.
A defect in the development of the spinal column, and in some cases the spinal cord.
The narrowing of an opening e.g. heart valve.
The breast bone.
Narrowing of a natural passage or channel of the body, such as the oesophagus, bowel or urethra.
The term applied to a group of symptoms or features, occurring together regularly enough to constitute a disorder to which a particular name is given.
The wind pipe.
The long tubes, one leading from each kidney which convey the urine to the bladder.
UPPER RESPIRATORY TRACT
The part of the respiratory system which constitutes the nose and mouth, down to the trachea.
The fertilised “egg”- the product of the fusion of the two sex cells (gametes) i.e. the sperm and the egg.