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A

Term Definition
Allergy

An acquired hypersensitivity to a substance that does not normally cause a reaction.

Amniocentesis

Transabdominal puncture of the amniotic sac, using a needle and syringe, in order to remove amniotic fluid. The material obtained may be studied chemically or cytologically to detect genetic disorders or maternal fetal blood incompatibility.

Anesthesia

A drug, administered for medical or surgical purposes that induces partial or total loss of sensation and may be topical, local, regional, or general, depending on the method of administration and area of the body affected.

Anxiety

A feeling of apprehension worry, uneasiness, or dread, especially of the future.

Artificial Tears

Lubricant eye drops used to treat the dryness and irritation associated with deficient tear production in dry eyes

Asthma

A condition caused by inflammation in the airways. When an asthma attack occurs, the muscles surrounding the airways become tight and the lining of the air passages swell. This reduces the amount of air that can pass by, and can lead to wheezing sounds.

Asymmetric

Lack of symmetry.

Atopic dermatitis

A type of eczema, an inflammatory chronically relapsing, non-contagious and “itchy” skin disease.

Attention Deficit Hyperactivity Disorder

Attention deficit hyperactivity disorder (ADHD) is one of the most common childhood disorders and can continue through adolescence and adulthood. Symptoms include difficulty staying focused and paying attention, difficulty controlling behavior, and hyperactivity (over-activity).

Autosomal Dominant

Some forms of ectodermal dysplasia, may be inherited in an autosomal dominant fashion.  Autosomal dominant means you need only one mutation to have the disorder.  Autosomal dominant disorders usually have an affected parent, because the parent carries one mutated copy of the gene which is then passed to the child who has the disorder.  More often in families with a child affected by ectodermal dysplasia, the mutation will be a de novo mutation, meaning it has arisen spontaneously, and the parent does not have it, but the child does.

Autosomal Recessive

Ectodermal dysplasias are also inherited in an autosomal recessive fashion. This means both parents contribute a mutation in the same gene to their child.  The child must have both mutations to have an ectodermal dysplasia. The parents are both carriers of ectodermal dysplasia and are unaffected.  The child may inherit a different mutation from each parent in the same gene (heterozygous).  If the child inherits the same mutation from both parents, it is called homozygous.