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info about dwarfism lpuk

A

Adenoids

Part of the immune system, help fight infection and protect the body from viruses and bacteria. They are only present in children.

Acromelia

Refers to a form of dwarfism in which shortening is most evident in the most distal segment of the limbs

Arthritis

Refers to any condition of joints of the limbs or spine associated with inflammatory or structural change. There are two main categories; osteoarthritis, in which the primary change is thought of as mechanical failure of articular cartilage; and rheumatoid arthritis, in which the primary problem is a chronic inflammation of the synovial lining of joints, tendon sheaths and bursae.

Audiogram

A graph produced during hearing tests (with an audiometer) that shows the hearing threshold – the minimal audible loudness level – for a range of sound frequencies.

Autosomal

Refers to chromosomes, other than the sex determining chromosomes e.g. x and y

 

B

Bone

The framework upon which the rest of the body is built up. The bones are generally called the skeleton; though this term also includes the cartilages that join the ribs to the breastbone, protect the larynx etc. Bone is composed of fibrous tissue, partly bone matrix compromising phosphate and carbonate of lime, intimately mixed together. The bones of a child are about two-thirds fibrous tissue, whilst those of the aged contain one-third, explaining the toughness of the former and the brittleness of the latter.

Bowlegs

Outward curvature of both legs and the knee. In early childhood it may correct with growth, but in other cases surgical correction may be necessary.

 

C

Cartilage

A hard but pliant substance forming parts of the skeleton – for example, the cartilage of ribs, of the larynx and of the ears.

Cauliflower Ear

The term applied to the distortion of the external ear. Initially it is due to a hematoma in auricle of the ear. It may be possible to prevent this distortion.

Cell

The basic structural unit of body tissues.

Chromosomes

A discrete unit of the genome, visible as a morphological entity during cell division. Each chromosome is a single DNA molecule.

Cleft Palate

A congenital fissure in the roof of the mouth (palate) and/or lip. It is found in varying degrees of severity. Modern plastic surgery can greatly improve the functioning of lips and palate

Club feet (Talipes)

Deformity apparent at birth, affecting the ankle and foot: the foot is twisted at the ankle-joint so that the sole does not rest on the ground when standing. Surgery may be required to aid correction.

Congenital

Conditions which are either present at birth, or which, being transmitted direct from the parents, show themselves some times after birth.

Connective Tissue

Sometimes called fibrous tissue. It is one of the most abundant tissues in the body, holding together the body’s many different structures.

Consultant

In Britain’s health service a consultant is the senior career post for a fully accredited specialist. He or she normally sees patients referred by general practitioners or emergency cases admitted direct to hospitals.

CT Scanner

The machine that combines the use of a computer and x-rays to produce cross sectional images of the body.

 

D

Deafness

Impairment of hearing.

Deoxyribonucleic Acid (DNA)

The fundamental genetic material of all cells and is present in the nucleus of the cell where it forms part of the chromosome and acts as a carrier of genetic information.

Detached Retina

Separation of the retina from the choroid of the eye; can be treated surgically.

Doctor

In Britain, doctor is the title given to a qualified medical practitioner registered with the General Medical Council, usually after he or she has obtained a bachelor’s degree or diploma in medicine and surgery.

Dominant genes

The mutation causing genetic disorder is present on only one of the pair of chromosomes. The condition can be present in children when passed on by one parent.

Dwarfism

Or short stature, refers to underdevelopment of the body.

 

G

Gait

The way in which an individual walks.

Genes

Biological units of heredity.

Gene Testing

A screening procedure that tests whether a person has a genetic make-up that is linked with a particular condition.

Genetic Counseling

The procedure where advice is given about the risks of family members having, or an individual giving birth to, a baby with a genetic disorder.

Genetic Disorders

These are caused when there are mutations or other abnormalities that disrupt the code of a gene or set of genes. These are divided in to autosomal, dominant, autosomal recessive, sex linked and polygenic disorders.

General Medical Council

A statutory body in the UK with equal numbers of appointed medical practitioners and appointed lay members with the responsibility of protecting patients and guiding doctors in their professional practice.

General Practitioner

A doctor working in primary care, acting as first port of professional contact for most patients in the NHS.

Genome

The genetic make-up of an organism

Glue Ear (Otitis Media)

Common child hood condition where the middle ear becomes filled with fluid.

 

H

Hereditary

When various aspects of bodily form or structure, or of physical or mental activity are passed on from parents to children.

Hitchhikers thumb

Where the thumb is positioned at approximately 90o to the hand.

Hydrocephalus

Abnormal accumulation of cerebrospinal fluid in the ventricles of the brain.

Hypermobility

Where joints have an unusually large range of mobility.

Hypotonia

State of low muscle tone, can often involve low muscle strength.

 

I

Inheritance

The transfer of characteristics, traits and disorders from parents to children by means of genes carried in the chromosomes.

 

K

Knock-knees

Condition of the lower limbs, causing the legs to diverge from one another when the limbs are straightened; as a result the knees knock against each other during walking.

Kyphosis

Forwards curvature of the spine.

 

L

Laminectomy

An operationin which the arches of one or more vertebrae in the spinal column are removed in order to expose a portion of the spinal chord. The procedure can be used for relief of pressure.

Lordosis

Inwards curvature of the lower spine.

 

M

Macrocephaly

Increased head size.

Mandible

The bone of the lower jaw.

Mesomelia

Refers to conditions in which the middle parts of limbs are disproportionately short. When applied to skeletal dysplasia it describes generalised shortening of the forearms and lower legs.

 

N

National Health Service

The UK NHS was inaugurated on 5 July 1948. Its original aim was to provide a comprehensive system of health care to everyone, free at the point of delivery. The service is now developed to the separate UK countries and funded by National Insurance contributions and from general taxation, with a small amount of patient charges.

National Institute for Health and Clinical Excellence

This special health authority in the National Health Service, launched in 1999, prepares formal advice for all managers and health professionals working in the service in England and Wales on the clinical value and cost-effectiveness of new and existing technologies.

 

O

Ossification

The formation of bone.

 

R

Recessive Genes

The mutation causing genetic disorder is present on both of the chromosomes in the pair. For the condition to be present in children both parents must pass it on.

Rhizomelia

Refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia.

 

S

Scoliosis

Side wards curvature of the spine

Skeletal Dysplasia 

Occurs when an individual organism is short in stature resulting from a medical condition.

Sleep Apnoea

The cessation of breathing for ten seconds or more during sleep; more often due to a transient obstruction of the airway between the level of the soft palate and the larynx (obstructive sleep apnoea) when the dilator muscles over-relax. Diagnosis has recently been facilitated by linking specially designed software with electrocardiography performed during sleep i.e. sleep test.

Spinal Fusion

Permanent joining of two or more vertebrae with no movement between them.

Spinal Stenosis

Narrowing of the spinal canal so that the nerves become squashed together. Causing numbness with pins and needles (paresthesia) in the legs. MRI scans can show the amount of cord compression. Surgical decompression may be needed to relieve this.

Stenosis

An unnatural narrowing in any passage or orifice of the body.

 

T

Tissue (of the body)

Simple elements from which various organs are built; all the body originates from the union of a pair of cells, but as growth proceeds the new cells produced from these form tissues of varying character and complexity.

Tonsils

Two almond shaped glands situated one on either side of the narrow fauces where the mouth joins the throat.

Trachea

Commonly known as the windpipe, this tube extends from the larynx above to the point in the upper part of the chest, where it divides in to the two large bronchial tubes, one to each lung.

Tracheostomy (Tracheotomy)

An operation in which the trachea is opened from the front of the neck, so that air may be directly drawn or passing to the lower air passages.

Trident hand

Shortened hands with a separation between the middle and ring fingers.

Trunk

The main part of the body excluding the head, neck and limbs.

 

U

Ultrasound

Widely used for diagnosis and also for some treatments. In obstetrics ultrasounds can assess the stage of pregnancy and detect conditions in the fetus.

 

V

Vertebra

One of the irregularly shaped bones that together form the vertebral column.

 

Definitions (i.e. references) have been taken from:

1) MARCOVITCH, H. (2009), Medical Dictionary, 42nd Edition: Black’s

2) REECE, R.J, (2003), Analysis of Genes and Genomes: Wiley

3) SMART, T. (2001) Human Body: Dorling Kindersley

4) www.nhs.co.uk

Commonly Used Acronymns

LP - Little Person/Little People

RG – Restricted Growth

POLP – Parent(s) of a Little Person

AH – Average Height

SENCO – Special Educational Needs Coordinator

LEA – Local Education Authority

TA – Teaching Assistant

EHCP – Educational Health Care Plan

PDSS – Physical Disability Support Service

OT – Occupational Therapist

PT – Physio Therapist

ENT – Ear, Nose, Throat Department

GP – General Practitioner

CSA – Central Sleep Apnea

OSA – Obstructive Sleep Apnea

MRI (scan) – Magnetic Resonance Imaging
http://www.nhs.uk/conditions/MRI-scan/Pages/Introduction.aspx

CT/CAT (scan) – Computerised (Axial) Tomography (uses x-rays)
http://www.nhs.uk/conditions/CT-scan/Pages/Introduction.aspx

X-Rays
http://www.nhs.uk/conditions/X-ray/Pages/Introduction.aspx

GMC – General Medical Council
http://www.gmc-uk.org

NHS – National Health Service
http://www.nhs.uk

NICE – National Institute for Health and Clinical Excellence
www.nice.org.uk

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