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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
Ms D. Eastwood, FRCS (Orth), Consultant in Paediatric Orthopaedics
Prof. J. Harper MD. FRCP.FRCPCH, Consultant in Paediatric Dermatology
M. F. Monsell MSc. FRCS (Orth), Consultant in Paediatric Orthopaedics

 
 
Registered Charity 1098608
Secretary: Jean Harrison, 10 Overhill Road, Weeping Cross, Stafford, ST17 0QA
01785 661263, jean@proteus-uk.org