Pendred Syndrome Glossary of Terms

Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene , one copy from each parent. The gene is on an autosome , a nonsex chromosome . The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
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Balance: A biological system that enables us to know where our bodies are in the environment and to maintain a desired position. Normal balance depends on information from the inner ear, other senses (such as sight and touch) and muscle movement.
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Blood: The familiar red fluid in the body that contains white and red blood cells, platelets, proteins, and other elements. The blood is transported throughout the body by the circulatory system. Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.

Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread).
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Carcinoma: Cancer that begins in the skin or in tissues that line or cover body organs. For example, carcinoma can arise in the breast , colon, liver, lung, prostate, and stomach.
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Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane .
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Chromosome: A visible carrier of the genetic information.
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Cochlea: The cochlea is the part of the inner ear that converts mechanical energy (vibrations) into nerve impulses sent to the brain. It is also known as the organ of hearing.
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Condition: The term "condition" has a number of biomedical meanings including the following:

1. An unhealthy state, such as in "this is a progressive condition."
2. A state of fitness, such as "getting into condition."
3. Something that is essential to the occurrence of something else; essentially a "precondition."
4. As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Congenital: Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of "congenital" in medicine. There are, for example, congenital abnormalities. (For more examples, see below.)
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Deafness: Deafness is defined by partial or complete hearing loss. Levels of hearing impairment vary from a mild but important loss of sensitivity to a total loss of hearing. Older adults suffer most often from hearing loss. Age-related hearing loss affects 30 to 35 percent of the population between the ages of 65 and 75 years, and 40 percent of the population over the age of 75. The most common cause of hearing loss in children is otitis media, a disorder that affects predominantly infants and young children. A substantial number of hearing impairments are caused by environmental factors such as noise, drugs, and toxins. Many sensorineural hearing losses result from a genetic predisposition.

Deafness with goiter: See Pendred syndrome.

Ear: The hearing organ. There are three sections of the ear, according to the anatomy textbooks. They are the outer ear (the part we see along the sides of our head behind the temples), the middle ear, and the inner ear. But in terms of function, the ear has four parts: those three and the brain. Hearing thus involves all parts of the ear as well as the auditory cortex of the brain. The external ear helps concentrate the vibrations of air on the ear drum and make it vibrate. These vibrations are transmitted by a chain of little bones in the middle ear to the inner ear. There they stimulate the fibers of the auditory nerve to transmit impulses to the brain.
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Essential: 1. Something that cannot be done without.
2. Required in the diet, because the body cannot make it. As in an essential amino acid or an essential fatty acid.
3. Idiopathic. As in essential hypertension. "Essential" is a hallowed term meaning "We don't know the cause."

Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.

Gland: 1. A group of cells that secrete a substance for use in the body. For example, the thyroid gland. 2. A group of cells that removes materials from the circulation. For example, a lymph gland.

Goiter: Enlargement of the thyroid gland .
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Goiter-deafness syndrome: See Pendred syndrome.

Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs.
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Hypothyroid: Deficiency of thyroid hormone which is normally made by the thyroid gland which is located in the front of the neck:

Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child.
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Inner ear: There are three sections of the ear. They are the external ear, the middle ear, and the inner ear. The inner ear is far and away the most highly complex. The essential component of the inner ear for hearing is the membranous labyrinth where the fibers of the auditory nerve (the nerve connecting the ear to the brain) end. The membranous labyrinth is a system of communicating sacs and ducts (tubes) filled with fluid (the endolymph). The membranous labyrinth is lodged within a cavity called the bony labyrinth. At some points the membranous labyrinth is attached to the bony labyrinth and at other points the membranous labyrinth is suspended in a fluid (the perilymph) within the bony labyrinth.
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Iodine: An essential element in the diet used by the thyroid gland to make thyroid hormones .
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Laboratory: A place for doing tests and research procedures and preparing chemicals, etc. Although "laboratory" looks very like the Latin "laboratorium" (a place to labor, a work place), the word "laboratory" came from the Latin "elaborare" (to work out, as a problem, and with great pains), as evidenced by the Old English spelling "elaboratory" designating "a place where learned effort was applied to the solution of scientific problems."
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Malformation: A structural defect in the body due to abnormal embryonic or fetal development. There are many types of malformations. For example, cleft lip and cleft palate. See also Congenital malformation.

Mental retardation: A term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. Children with mental retardation may take longer to learn to speak, walk, and take care of their personal needs such as dressing or eating. They are likely to have trouble learning in school. They will learn, but it will take them longer. There may be some things they cannot learn. As many as 3 out of every 100 people have mental retardation. In fact, 1 out of every 10 children who need special education has some form of mental retardation.
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Metabolism: The whole range of biochemical processes that occur within us (or any living organism). Metabolism consists both of anabolism and catabolism (the buildup and breakdown of substances, respectively). The term is commonly used to refer specifically to the breakdown of food and its transformation into energy.

Neck: The part of the body joining the head to the shoulders. Also, any narrow or constricted part of a bone or organ that joins its parts as, for example, the neck of the femur bone.
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Pendred syndrome : A genetic disease characterized by congenital deafness, abnormality of the bony labyrinth in the inner ear, and goiter (enlargement of the thyroid gland). The congenital nerve deafness is severe to profound and is not progressive (does not get worse). The abnormality of the labyrinth is evident on a CT scan of the temporal bone in the skull. The goiter is not present at birth but develops in early puberty or adulthood. It is due to a defect in the making of thyroid hormone (thyroid hormone organification defect). However, there is usually a normal level of thyroid hormone (euthyroid) due to compensated hypothyroidism. Other key features of the syndrome include defects in vestibular function, malformation of the balance portion of the ear (the cochlea), swelling in front of neck due to the goiter, and mental retardation due to the congenital thyroid defect. Pendred syndrome is inherited in an autosomal recessive manner and is due to mutation in the SLC26A4 gene on chromosome 7q31 that encodes a protein called pendrin. Also known as deafness with goiter, goiter-deafness syndrome, and thyroid hormone organification defect IIb.
See the entire definition of Pendred syndrome

Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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Thyroid: 1. The thyroid gland. Also, pertaining to the thyroid gland. 2. A preparation of the thyroid gland used to treat hypothyroidism. 3. Shaped like a shield. (The thyroid gland was so-named by Thomas Wharton in 1656 because it was shaped like an ancient Greek shield.)

Thyroid cancer : Cancer of the gland in front of the neck that normally produces thyroid hormone which is important to the normal regulation of the metabolism of the body. There are 4 major types of thyroid cancer -- papillary, follicular, medullary, and anaplastic. The most common symptom of thyroid cancer is a lump, or nodule, that can be felt in the neck. The only certain way to tell whether a thyroid lump is cancer is by examining the thyroid tissue, obtained using a needle or surgery to obtain a biopsy.

Thyroid gland: A gland that makes and stores hormones that help regulate the heart rate, blood pressure, body temperature, and the rate at which food is converted into energy. Thyroid hormones are essential for the function of every cell in the body. They help regulate growth and the rate of chemical reactions ( metabolism ) in the body. Thyroid hormones also help children grow and develop.
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Thyroid hormone: A chemical substance made by the thyroid gland for export into the bloodstream. The thyroid gland needs iodine to make thyroid hormones. The two most important thyroid hormones are thyroxine (T4) and triiodothyronine (T3).
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Thyroid hormone organification defect IIb: See Pendred syndrome.

Thyroid hormones: Chemical substances made by the thyroid gland, which is located in the front of the neck. This gland uses iodine to make thyroid hormones, which are essential for the function of every cell in the body. They help regulate growth and the rate of chemical reactions (metabolism), and are involved in the circadian rhythms that govern sleep , among other essential functions.
See the entire definition of Thyroid hormones

Trachea: A tube-like portion of the breathing or "respiratory" tract that connects the "voice box" (larynx) with the bronchial parts of the lungs.

Vestibular: 1) Having to do with a structure that is a vestibule (entrance), such as the vestibule of the ear. 2) Having to do with the body's system for maintaining equilibrium.

Windpipe: The trachea, a tube-like portion of the respiratory (breathing) tract that connects the larynx (the voicebox) with the bronchial parts of the lungs.

From the Doctors at MedicineNet.com

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