Why Our Baby’s 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 BRAINSTEMEVOKED 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.
FFA Fatal Fetal Anomaly
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.
LLC Life-Limiting Condition
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 Refers to the period after birth up until the fourth completed week of life.
NICU Neonatal Intensive Care Unit
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.
PPC Perinatal Palliative Care. Describes the perinatal palliative care of a baby when life expectancy is limited and death is imminent. It encompasses care of the baby from the time of diagnosis through to death, and care of the baby and parents following death.
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 general 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.
T.O.P. Termination of Pregnancy
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.