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Term Definition
Orthodontics

The branch of dentistry which deals with the prevention and correction of irregularities of the teeth.

Orthodontist

A dentist who specializes in orthodontics.

Pediatrician

A specialist in treatment of children’s diseases.

Pneumonia

Inflammation of the lungs caused primarily by bacteria, viruses, and chemical irritants.

Prosthesis

Dentures and other artificial appliances to replace teeth

Psycho-social

Related to both psychological and social factors.

Pulmonologist

A physician trained to specialize in lung diseases.  These diseases include breathing problems in muscle disease, asthma and emphysema.  A pulmonologist may not be familiar with how best to diagnose and treat an individual with ectodermal dysplasia who is having breathing problems.

Punctal plugs

A small medical device that is inserted into the tear duct (puncta) of an eye to block the duct. This prevents the drainage of liquid from the eye. They are used to treat dry eye.

Radiographs

X-rays

Retinal damage

The retina is the layer of neurosensory tissue that lines the back, inside wall of the eye. If you imagine that your eye is like a camera, then the retina is the film. When rays of light enter the eye and are focused on the retina by the cornea and lens, the retina reacts. The light receptive nerve cells that comprise the retina generate a nerve impulse whenever they are exposed to light. The retina then sends these nerve impulses along the optic nerve to the brain which interprets them as a picture. It is rather like the film in the camera being developed so that pictures can be viewed. However, just like a picture cannot be developed if the camera has defective film, vision is not possible in an eye with a defective retina.

Sensitivity

The frequency with which a test yields a positive result when the individual being tested is actually affected and/or has the gene mutation in question

Short statured

The term short stature describes height that is in the third percentile as compared to that of the average height for a person's age, sex, and racial group. Short stature is generally broken down into three subgroups: familial short stature, constitutional delay and development, and that caused by chronic disease. Familial short stature usually does not require doctor’s care. However, if short stature is related to growth hormone deficiency, the child will need to be treated before reaching puberty to achieve his/her maximum height potential.

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