Caring for Special Babies & Children/Adults
Support Organisation for Trisomy 13/18 - (Patau's/Edward's Syndrome)




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.