Down Syndrome Glossary of Terms

Abdominal: Relating to the abdomen, the belly, that part of the body that contains all of ...

Acute: Of abrupt onset, in reference to a disease. Acute often also connotes an illness th...

ADHD: Attention deficit hyperactivity disorder.

Advanced maternal age: Usually defined as age 35 or more for the mother at the time of del...

Alzheimer disease: See: Alzheimer's disease.

Alzheimer's disease: A progressive degenerative disease of the brain that leads to dementi...

Amniocentesis: A before-birth diagnostic procedure during which a long needle is used to o...

Analysis: In psychology, a term for conversation-based therapeutic processes used to gain ...

Anus: The opening of the rectum to the outside of the body.

Apnea: The absence of breathing (respiration).

Atresia: Absence of a normal opening, or failure of a structure to be tubular. Atresia can...

Atrial: Pertaining to the atria, the upper chambers of the heart, as in atrial fibrillatio...

Autism: A spectrum of neuropsychiatric disorders characterized by deficits in social inter...

Brain: The portion of the central nervous system that is located within the skull. It func...

Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, ...

Cardiac: Having to do with the heart.

Cell: The basic structural and functional unit of any living thing. Each cell is a small c...

Cerebellum: The portion of the brain that is in the back of the head, between the cerebrum...

Cervical: Having to do with any kind of neck, including the neck on which the head is perc...

Chorionic villus sampling: A procedure for first-trimester prenatal diagnosis. Abbreviated...

Chromosome: A carrier of genetic information that is visible under an ordinary light micro...

Chromosomes: The microscopically visible carriers of the genetic material. They are compos...

Clinical trials: Trials to evaluate the effectiveness and safety of medications or medical...

Cognition: The process of knowing. Cognition includes both awareness and judgment.

Cognitive: Having to do with thought, judgment, or knowledge.

Conception: 1. The union of the sperm and the ovum. Synonymous with fertilization.
...

Congenital: A condition that is present at birth, whether or not it is inherited.

Congenital heart disease: A malformation of the heart, aorta, or other large blood vessels...

Constipation: Infrequent and frequently incomplete bowel movements. Constipation is the op...

Dementia: Significant loss of intellectual abilities, such as memory capacity, that is sev...

Depression: An illness that involves the body, mood, and thoughts and that affects the way...

Diagnosis: 1 The nature of a disease; the identification of an illness. 2 A ...

Down syndrome: A common birth defect that is usually due to an extra chromosome 21 (trisom...

Down syndrome critical region: (Abbreviated DSCR) A region on the long (q) arm of chromoso...

DSCR: See: Down syndrome critical region.

Ductus: A duct or walled passageway suitable for the conveyance of air or, more often in t...

Ductus arteriosus: A short vessel through which blood headed from the heart via the pulmon...

Duodenal: Pertaining to the duodenum, part of the small intestine. As in duodenal ulcer or...

Dysfunction: Difficult function or abnormal function.

Ear: The hearing organ. There are three sections of the ear, according to the anatomy tex...

Esophageal: Related to the esophagus.

Father: (1) The male parent. (2) One who originates. For example, "Wilhelm Roentgen is con...

Femur: The single bone in the thigh, which is the largest bone in the human body. Also kno...

Fertile: Able to conceive and bear offspring. Also known as fecund.

Fertilization: The process of combining the male gamete, or sperm, with the female gamete,...

Fistula: An abnormal passageway in the body. The fistula may go from the body surface int...

Fluorescent in situ hybridization: An important molecular cytogenetic method for identify...

Gastrointestinal: Adjective referring collectively to the stomach and small and large inte...

Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) nee...

Genetic: Having to do with genes and genetic
information.

Genetics: The scientific study of heredity. Genetics pertains to humans and all other orga...

Gonadotropin: Hormones that are secreted by the pituitary gland, and that affect the func...

Heart: The muscle that pumps blood received from veins into arteries throughout the body. ...

Heart disease: Any disorder that affects the heart. Sometimes the term "heart disease" is ...

Hippocampus: An area deep in the forebrain that helps regulate emotion, learning, and memo...

Human chorionic gonadotropin: (hCG) A human hormone made by chorionic cells in the fetal ...

Humerus: The long bone in the upper arm that extends from the shoulder to the elbow.

Hyperactivity: A higher than normal level of activity. An organ can be described as hyper...

Hypothyroid: Deficiency of thyroid hormone which is normally made by the thyroid gland wh...

Hypotonia: Decreased muscle tone and strength that results in floppiness. Hypotonia is a c...

Imperforate anus: A birth defect in which the rectum is a blind alley and there is no anus...

In situ: In the normal location. An in situ tumor is one that is confined to its site of o...

In situ hybridization: The use of a DNA or RNA probe to detect complementary genetic mater...

Indicate: In medicine, to make a treatment or procedure advisable because of a particular ...

Infant: A young baby, from birth to 12 months of age.

Infantile spasms: A seizure disorder of infancy and early childhood with the onset predomi...

Inheritance: The transmission of a gene from parent to child. The pattern of inheritance i...

Intervention: The act of intervening, interfering or interceding with the intent of modify...

Leg: In popular usage, the part of the body from the top of the thigh down to the foot, an...

Leukemia: Cancer of the blood cells. Strictly speaking, leukemia should refer only to canc...

Maternal: 1. Pertaining to the mother as, for example, the maternal mortality rate....

Maternal age: The age of the mother at the time of delivery. Advanced maternal age is usua...

Memory: 1. The ability to recover information about past events or knowledge. ...

Mongolism: Obsolete name for Down syndrome.

Mosaic: A person or a tissue that contains two or more types of genetically different cell...

Mouth: 1. The upper opening of the digestive tract, beginning with the lips and con...

Muscle: Muscle is the tissue of the body which primarily functions as a source of power. T...

Myeloid: Referring to myelocytes, a type of white blood cell. Also known as myelogenous.

Neck: The part of the body joining the head to the shoulders. Also, any narrow or constric...

Nose: The external midline projection from the face. The purpose of the nose is to warm, c...

Nuchal: Referring to the back of the neck (nape). For example, nuchal rigidity is a stiff ...

Obesity: The state of being well above one's normal weight.

OCD: 1. Obsessive-compulsive disorder; 2. Osteochondritis dissecans.

Otitis: Inflammation of the ear. Depending upon which part of the ear is inflammed, there ...

Otitis media: Inflammation of the middle ear characterized by the accumulation of infected...

Ovum: An egg within the ovary of the female. An ovum can combine with sperm to form a zygo...

Palmar: Pertaining to the palm (the grasping side) of the hand. The ancient Romans used th...

Patent ductus: Failure of the ductus arteriosus, which functions in fetal life as an arter...

Patent ductus arteriosus: Failure for the ductus arteriosus, an arterial shunt in fetal li...

Percutaneous: Through the skin. For example, a percutaneous biopsy is a biopsy that is obt...

Physical therapy: A branch of rehabilitative health that uses specially designed exercises...

Pregnancy: The state of carrying a developing embryo or fetus within the female body. Thi...

Prenatal: Occurring or existing before birth.

Prenatal diagnosis: Diagnosis before birth. Methods for prenatal diagnosis include ultraso...

Psychiatric: Pertaining to or within the purview of psychiatry, the medical specialty conc...

Recurrence: The return of a sign, symptom, or disease after a remission. The reappearance ...

Recurrence risk: The chance that a disease will strike again. In medical genetics, the cha...

Risk factor: Something that increases a person's chances of developing a disease. For exam...

Robertsonian translocation: A common and significant type of chromosome rearrangement that...

Sleep: The body's rest cycle.

Sleep apnea: The temporary stoppage of breathing during sleep, often resulting in daytime ...

Speech therapy: The treatment of speech and communication disorders. The approach used d...

Sperm: A sperm is the male "gamete" or sex cell. It combines with the female &qu...

Stenosis: A narrowing. For example, aortic stenosis is a narrowing of the aortic valve in ...

Surgery: The branch of medicine that employs operations in the treatment of disease or inj...

Syndrome: A combination of symptoms and signs that together represent a disease process.

Testicular cancer: A malignant tumor of the male sex organ (testicle) that normally produc...

Tetralogy of Fallot: A combination of four heart defects that are present at birth and acc...

Therapy: The treatment of disease. Therapy is synonymous with treatment.

Tongue: A strong muscle that is anchored to the floor of the mouth. The tongue is covered ...

Trisomy: The presence of three copies of a chromosome rather than the normal two. The most...

Ultrasound: High-frequency sound waves. Ultra-sound waves can be bounced off tissues by us...

Umbilical cord: The cord that connects the developing fetus with the placenta while the fe...

Ventricular: Pertaining to the ventricles, the lower chambers of the heart, as in ventricu...

Villus: 1. A tiny finger-like or hair-like projection. 2. A small vascular p...