Glossary

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.

APNOEA
Periods of interrupted breathing or breath holding.

AURAL
Pertaining to hearing.

AUDITORY BRAINSTEM¬EVOKED RESPONSE
Determines if hearing system can transmit information about sounds to the brain.

AUTOSOME
The term used to donate any of the paired chromosomes – excepting the sex chromosomes.

CAMPTODACTYLY
Permanent bending of a finger or fingers.

CARDIAC
Pertaining to the heart.

CELLS
“Building blocks” of body tissue.

CEREBELLUM
The part of the brain which is concerned with movement and muscle tone.

CHORIAN
The outer of the three tissue membranes which enclose the foetus during pregnancy.

CLINODACTYLY
Curving round of a finger or fingers, most commonly in the fifth finger.

COLOBOMA
A congenital gap in one of the structures of the eye – usually applied to the lens, retina, iris or lid.

CONGENITAL
Present at birth.

CRYPTOCHIDISM
The testes have not descended to the scrotum.

CYANOSIS
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.

CYCLOPIA
Fusion of the eyes.

CYTOGENETICS
The science of chromosome analysis.

DERMATOGLYPHICS
Ridged patterns of the fingers, palms, toes and soles of the feet. Unusual patterns may suggest a chromosomal abnormality.

DEXTROCARDIA
The heart is on the right side of the chest.

DIGIT
A finger or toe.

DIAPHRAGM
The dome¬ shaped muscular partition which separates the cavity of the abdomen from that of the chest.

D.N.A.
The abbreviation for deoxyribonucleic acid, the essential “building blocks” for all genetic material.

E.C.G.
(Electrocardiogram) An electrical recording of the action of the heart.

E.E.G.
(Electroencephalogram) A system of recording the rhythmic waves of electric energy discharged by the nerve cells in the brain.

EMBRYO
The term used to describe the foetus in the womb, prior to the end of the eighth week.

EPILEPSY
A sudden discharge of energy from the brain, resulting in convulsions and mild to severe changes in the level of consciousness.

FERTILISATION
The process in which the female sex cell (egg) is impregnated by the male sex cell (sperm).

FLEXION CREASES
Creases upon the palm of the hand, sole of the foot and digits.

FOETUS
The unborn baby after the eighth week of pregnancy.

GAMETE
A sex cell – an egg or sperm. When two gametes unite the result is termed a “zygote”.

GASTRO-OESOPHAGEAL REFLUX
Splashing or rising of food and stomach acids from the stomach to the oesophagus.

GASTROSTOMY
A method of feeding through a tube permanently inserted through the abdomen.

GENE
One of the 50,000 to 100,000 codes which direct development and function. Different genes govern different features.

GENETICS
The study of heredity, characteristics and development.

GESTATION
The period of pregnancy.

GRAND MAL
A convulsive epileptic attack of the more severe type.

HAEMANGIAMATA
A swelling consisting of abnormal blood vessels.

HAEMOGLOBIN
The colouring matter of the red blood cells, which gives blood its colour.

HEREDITY
Transmission of characteristics from parents to their offspring.

HERNIA
Protrusion of an organ or part of an organ into, or through, the wall of the cavity in which it is situated.

HOLOPROSENCEPHALY
Failure of the forebrain to divide properly.

HYPERCONVEX
Excessively curved outwards or spoon shaped.

HYPERTONIA
An increased degree of tone or tension, usually applied to muscle.

HYPOTONIA
Lack of muscle tone: floppiness.

HYDROCEPHALUS
Faulty distribution of cerebral-spinal fluid, usually resulting in a large head because of fluid accumulation.

HYPSARRYTHMIA
A type of infantile spasm, characterised by a high-voltage wave pattern on an electroencephalogram.

INTRAUTERINE
Within the uterus.

KARYOTYPE
The photograph of a set of chromosomes arranged in order.

LONG ARM
(“q” arm) Lower long arm of chromosome.

MICROCEPHALY
A small head.

MICROGNATHIA
An abnormally small jaw.

MICROPTHALMIA
Abnormal smallness of one or both eyes.

MONOSOMY
Absence of a whole chromosome or arm of a chromosome.

MYELOMENINGOCELE
A hernial protrusion of the spinal cord and its meninges through a defect in the vertebral canal.

NEONATAL
Newborn.

NISSEN FUNDOPLYCATION
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.

NON-DISJUNCTION
The failure of chromosome pairs to separate correctly during division, resulting in an abnormal number of chromosomes in the cells.

OCULAR
Pertaining to the eye.

OEDEMA
Swelling due to an accumulation of fluid in the tissues.

OESOPHAGUS
The canal down which food and drink is conveyed from the mouth to the stomach via the throat.

OMPHALOCELE
Protrusion of the intestines through the abdomen of the infant at the umbilical cord, usually covered by a thin membrane.

OPTIC
Pertaining to the eye.

PAEDIATRICS
The branch of medicine concerned with childhood illness.

PALATE
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.

PALMAR
Pertaining to the palm of the hand.

PERINATAL
Around the time of birth, immediately before, during or after birth.

PETIT MAL
A convulsive epileptic attack of a minor nature.

POLYCYSTIC KIDNEYS
The substance of both kidneys is largely replaced by numerous cysts.

POLYDACTYLY
One or more extra fingers or toes.

PRENATAL
Before birth.

REFLUX
A backward flow or regurgitation.

RENAL
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.

SCOLIOSIS
Curvature of the spine.

SEX CHROMOSOMES
The “X” and “Y” chromosomes which determine the sex of an individual.
XX = Female, XY = Male.

SHORT ARM
(“p” arm) Upper short arm of chromosome.

SIBLINGS
Children of the same parents i.e. brothers and sisters.

SIMIAN CREASE
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.

SPINA BIFIDA
A defect in the development of the spinal column, and in some cases the spinal cord.

STENOSIS
The narrowing of an opening e.g. heart valve.

STERNUM
The breast bone.

STRICTURE
Narrowing of a natural passage or channel of the body, such as the oesophagus, bowel or urethra.

SYNDROME
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.

TALIPES
Club foot.

TRACHEA
The wind pipe.

URETERS
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.

ZYGOTE
The fertilised “egg”- the product of the fusion of the two sex cells (gametes) i.e. the sperm and the egg.

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