Rothmund-Thomson Syndrome Glossary of Terms

Skin Problems Slideshow

Arms: An appendage in anatomy and in clinical trials. See: Arm.

Atrophy: Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass.
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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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Bone cancer: A malignancy in bone. Primary bone cancer , one that begins in bone, is uncommon but it is not unusual for a malignancy to spread to bone from other parts of the body such as from breast , lung, and prostate.
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Bone density: Bone density is the amount of bone tissue in a certain volume of bone. It can be measured using a special x-ray called a quantitative computed tomogram.

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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Cataract: A clouding of the lens of the eye. The normally clear aspirin-sized lens of the eye starts to become cloudy. The result is much like smearing grease over the lens of a camera. It impairs normal vision.

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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Chronic: This important term in medicine comes from the Greek chronos, time and means lasting a long time.
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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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Diarrhea : A familiar phenomenon with unusually frequent or unusually liquid bowel movements, excessive watery evacuations of fecal material. The opposite of constipation . The word "diarrhea" with its odd spelling is a near steal from the Greek "diarrhoia" meaning "a flowing through." Plato and Aristotle may have had diarrhoia while today we have diarrhea. There are myriad infectious and noninfectious causes of diarrhea.
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DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA . In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)
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DNA replication: A wondrous complex process whereby the ("parent") strands of DNA in the double helix are separated and each one is copied to produce a new ("daughter") strand. This process is said to be "semi-conservative" since one of each parent strand is conserved and remains intact after replication has taken place.

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

Genetics: The scientific study of heredity . Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
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Incidence: The frequency with which something, such as a disease, appears in a particular population or area. In disease epidemiology, the incidence is the number of newly diagnosed cases during a specific time period. The incidence is distinct from the prevalence which refers to the number of cases alive on a certain date.
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Lens: The transparent structure inside the eye that focuses light rays onto the retina (the nerve layer that lines the back of the eye, senses light and creates impulses that go through the optic nerve to the brain). The lens was named after the lentil bean because it resembled it in shape and size.
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Mutation: A permanent change, a structural alteration, in the DNA or RNA . In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV , mutations occur in RNA which is the genetic material of retroviruses.
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Osteopenia: Mild thinning of the bone mass, but not as severe as osteoporosis . Osteopenia results when the formation of bone (osteoid synthesis) is not enough to offset normal bone loss (bone lysis). Osteopenia is generally considered the first step along the road to osteoporosis, a serious condition in which bone density is extremely low and bones are porous and prone to shatter. Diminished bone calcification, as seen on plain X-ray film, is referred to as osteopenia, whether or not osteoporosis is present. The diagnosis of osteopenia may also be made by a special X-ray machine for bone density testing.
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Osteosarcoma: A cancer of the bone that occurs predominantly in adolescents and young adults. It accounts for 5 percent of cancer in children.
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Poikiloderma: Extra pigmentation of the skin demonstrating a variety of shades and associated with widened capillaries (telangiectasia) in the affected area.

Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
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Radial: A word with diverse meanings in medicine and the biomedical sciences:

1. Pertaining to the radius, the smaller bone in the forearm . The radial artery is so named because of its proximity to the radius.
2. Pertaining to the radius of a circle.
3. Spreading from a central point. A radial keratotomy is an eye operation in which incisions are made in the cornea that resemble the spokes in a wheel.

Rash : Breaking out (eruption) of the skin. Medically, a rash is referred to as an exanthem.
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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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Replication: A turning back, repetition, duplication, reproduction.
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Rothmund-Thomson syndrome: An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with growth retardation, premature baldness , juvenile cataracts , depressed nasal bridge, and malformations of the teeth, hair, and bone. There is also underdevelopment of the gonads, soft tissue contractures of the limbs, anemia, and a tendency to develop a type of bone cancer (osteogenic sarcoma).
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RTS: Rothmund-Thomson syndrome.

Skeletal: Pertaining to the skeleton, the bones of the body which collectively provide the framework for the body.

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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From the Doctors at MedicineNet.com

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