glossary

Glossary of Terms Associated with Proteus Syndrome and related conditions

Angiography	x-ray examination of blood vessels after injection of a dye
Anodontia	teeth that have failed to develop
Angiofibroma	simple (benign) tumour composed of blood vessels and connective tissue
Angioma	simple (benign) tumour composed of blood or lymphatic tissue
Angiomatosis	Multiple angiomas of the skin and other organs
Aplasia	an organ or part of the body missing at birth
Arthropathy	a disease or disorder involving a joint
Arteriovenous	of arteries or veins
Atrophy	wasting of any tissue or organ
Asymmetry	both sides not Same size
Benign	a non malignant tumour or growth that does not invade and destroy the tissue in which it originates or spread to other tissues
Bilateral	relating to two sides
Biopsy	removal of a small piece of living tissue for microscopic examination
Calcification	build up of calcium deposits
C.A.T. / C.T. Scan	'Computed Axial Tomography' x-ray of any organ, including the brain that uses computer reconstruction of multiple images at different planes (slices).
CafŽ au lait spots	flat coffee coloured patches on the skin
Cardiac	relating to or affecting the heart
Camptodactyly	where one or more fingers are curved inwards on the palm (flexed) and are cannot be straightened
Cardio-vascular system	pertaining to the heart and blood vessels
Cartilaginous	containing cartilage
Central nervous system	The brain and the spinal cord
Chromosome	Thread like structures present in the centre (nuclei) of all body cells (with the exception of the red blood cells), which store genetic information
Clubbing	thickening of the tissues at the bases of the fingers and or toe nails
Congenital	a condition which is recognised at birth or that is believed to have been present at birth
Connective tissue	general term for all tissues of the body which support and connect various organs and other structures.
Cranial	related to the skull
Craniosynostosis	premature closure of the gaps (sutures) between the skull bones
Cyst	A sack filled with fluid situated under the skin or in an internal organ
Defect	failure in normal function
Degeneration	worsening of a condition
Distal	situated furthest from the central line of the body
Dysfunction	impaired function
Dysgenesis	impaired or faulty development
Dysmorphic	An abnormality of the structure of part of the body
Dysostosis	defective formation of a bone
Dysplasia	An abnormality of tissue development
Dwarfism	abnormally short stature
Ectromelia	congenital absence or gross shortening of the long bones of one or more limb
E.C.G.	'Electrocardiogram' a recording of the electrical activity of the heart
E.E.G.	'Electroencephalogram' a recording of the electrical activity of the brain
Epidemiology	study of the incidence and geographical pattern of a disease
Exstrophy	congenital condition in which part of an internal organ is present outside the body (eg: bladder, intestine)
Facioscapulohumeral	affecting the face shoulder and upper arm
Fissure	a groove cleft or furrow
Fistula	an abnormal connection between two hollow organs (eg: bowel and bladder)
Flaccid	flabby Ð lacking in firmness
Flexion	act of bending a joint
Genetics	a branch of medicine that deals with heredity
Gigantism	abnormally tall stature and or excessive growth
Girth	a measure around a part of the body or extremity
Haemangioma	an benign tumour composed of dilated blood vessels
Haemarthrosis	joint pain and swelling caused by bleeding into a joint
Haematoma	an accumulation of blood that clots within the tissues forming a solid sponge like swelling (when under the skin this is a simple bruise).
Hamartomatous	a benign tumour containing different tissue types such as muscle and skin.
Hemi -	prefix for 'half'
Hemihypertrophy	overgrowth of one side of the body
Heterotopia	the displacement of part of an organ from its normal position
Hydrocephalus	abnormal increase in pressure of cerebrospinal fluid within the skull
Hyper -	prefix for 'more than normal'
Hyperostosis	overgrowth of the bone
Hyperpigmented	excessively coloured Ð usually the skin
Hypertonia	increased degree of tone or tension in muscles
Hypertrophy	increase in the size of any tissue or part of an organ
Hypopigmentation	patchy or complete pallor of the skin
Hypotonia	abnormally low muscular tension
Kyposis	Increase curvature of the spine to give a stooped posture (see also scoliosis)
Lesions	tissue with impaired function as a result of damage disease or wounding
Ligament	thick band of fibrous tissue connecting bones and joints
Lipoma	benign tumour of fatty tissue
Lipomatosis	the presence of muliple lipomas
Lymph	colourless fluid containing white cells salt and small quantities of protein
Lymphangiectasia	dilated lymph vessels due to obstruction of flow
Lymphangioma	Nodule or mass of lymphatic and blood vessels
Macrencephaly	abnormally enlarged brain
Macrocephaly	abnormally large skull
Macrodactyly	abnormally large size of one or more of the fingers or toes
Macrognathia	marked overgrowth of the jaw
Macromelia	abnormally large size of the arms or legs
Malformation	any variation from the normal physical structure due to abnormal development
Malignant	A tumour or growth that invades and destroys the tissue in which it originates or spreads to other tissues
Microcephaly	abnormally small head abnormally small or short fingers (usually called brachydactyly)
M.R.I. Scan	'Magnetic Resonance Imaging' - a scan of the body which uses magnetic energy rather than radiation to view an organ or body parts, especially useful for viewing soft tissue
Oedema	swelling due to an accumulation of fluid in the tissues
Orofacial	of the mouth or face
Osteo-	prefix for 'relating to bone'
Osteochondritis	Inflammation of the bone and cartilage
Papillae	small outgrowths or tags of skin
Port wine stain	a flat purplish mark on the skin usually present at birth
Proximal	situated towards the centre of the body
Purpura	Purple spots and patches caused by leakage of blood into the tissues under the skin (bruising)
Scoliosis	curvature of the spine (from side to side - see also kyphosis)
Splenomegaly	enlarged spleen
Syndactyly	webbing or complete joining of fingers and or toes
Syndrome	a combination of signs and/or symptoms that form a clinical picture
Telangiectasia	radiating web like pattern of small blood vessels on the skin
Torsion	twisting
Transverse	crosswise
Tumour	Any unusual growth or lump within a tissue. It can be benign if it is not likely to spread to other tissues or malignant if it can spread to other tissues
Ultrasound	diagnostic test using ultrasonic waves to form a picture
Unilateral	involving one side only
Visceromegaly	enlargement of any of the major internal organs
Medical Advisory Board Supported by Great Ormond St. Hospital for Sick Children, London Prof. R. Winter FRCP F.Med Sci, Consultant in Clinical Genetics and Dysmorphology Prof. J. Harper MD. FRCP.FRCPCH, Consultant in Paediatric Dermatology M. F. Monsell MSc. FRCS (Orth), Consultant in Paediatric Orthopaedics