|
 |
||
 |
| This glossary contains: 19186 medical terms |
 |
Cartilage hair hypoplasia syndrome
|
|
Cartilage hair hypoplasia syndromeA specific genetic form of short-limbed dwarfism with skeletal features that also include normal head, inability to fully extends the elbows, chest cage deformity, bow legs (genu varum), and the tibia shorter than the fibula. The fingers are usually loose-jointed and the fingernails foreshortened. Biopsy shows hypoplasia (underdevelopment) of cartilage to be the nature of the skeletal abnormality. The hair is unusually fine, sparse and light-colored. Microscopically, it has an abnormally small caliber. Many patients with cartilage hair hypoplasia have a major immunologic defect that is manifested, for example, as an unusual susceptibility to chickenpox. In addition to lymphopenia (lack of lymphocytes), some patients have anemia and neutropenia (lack of neutrophiliuc white blood cells). There is an increased malignancy risk, especially lymphoma and skin cancer. A condition called aganglionic megacolon (Hirschsprung disease) is also found in some patients.
RELATED TERMS--------------------------------------
Genetic
Hereditary. Having to do with the genes.
Dwarfism
A deficiency of growth hormone resulting in short stature.
Chest
The area of the body located between the neck and the abdomen. The chest contains the lungs, the heart and part of the aorta. The walls of the chest are supported by the dorsal vertebrae, the ribs, and the sternum.
Tibia
The segment of the leg between the femur and the tarsus.
Fibula
Smaller of the two bones in the lower leg; runs from the knee to the ankle along the outside of the lower leg.
Biopsy
Surgical removal of a piece of tissue from a person for microscopic examination to make a diagnosis (eg to determine whether abnormal cells such as cancer cells are present).
Hypoplasia
Underdevelopment of a tissue or organ usually due to a decrease in the number of cells.
Cartilage
A firm, flexible connective tissue. In vertebrates, the cartilage forms the skeleton in the early stages of development, after which it is largely replaced by bone. Some cartilage remains at the joints to give flexibility and support.
Chickenpox
A viral disease that usually begins with fever and cough, followed by a rash that progresses from red bumps to blisters to scabs. A vaccine is available to prevent this disease. Also called varicella or varicella zoster.
Lymphopenia
A reduction, relative or absolute, in the number of lymphocytes in the circulating blood.
Anemia
Anemia is a condition in which a deficiency in the size or number of erythrocytes (red blood cells) or the amount of hemoglobin they contain limits the exchange of oxygen and carbon dioxide between the blood and the tissue cells. Most anemias are caused by a lack of nutrients required for normal erythrocyte synthesis, principally iron, vitamin B-12, and folic acid. Others result from a variety of conditions, such as hemorrhage, genetic abnormalities, chronic disease states or drug toxicity.
Neutropenia
Neutropenia refers to an abnormal decrease in the number of neutrophils in the blood.
Blood
The life-maintaining fluid which is made up of plasma, red blood cells (erythrocytes), white blood cells (leukocytes), and platelets; blood circulates through the body's heart, arteries, veins, and capillaries; it carries away waste matter and carbon dioxide, and brings nourishment, electrolytes, hormones, vitamins, antibodies, heat, and oxygen to the tissues.
Malignancy
A tendency to worsen to a more serious illness or death. Commonly used to describe cancer.
Risk
In clinical trials, the probability of harm or discomfort for subjects, arising from the test product. Acceptable risk differs depending on the condition for which a product is being tested. A product for sore throat, for example, will be expected to have a low incidence of side effects. However, unpleasant side effects may be an acceptable risk when testing a promising treatment for a life-threatening illness.
Lymphoma
Cancer of the lymphoid tissues. Lymphomas are often described as being large cell or small cell types, cleaved or non-cleaved, or diffuse or nodular. The different types often have different prognoses. Lymphomas can also be referred to by the organs where they are active, such as CNS lymphomas, which are in the central nervous system, and GI lymphomas, which are in the gastrointestinal tract. The types of lymphomas most commonly associated with HIV infection are called non-Hodgkin's lymphomas or B cell lymphomas. In these types of cancers, certain cells of the lymphatic.
Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).
Cancer
Any malignant growth or tumor caused by abnormal and uncontrolled cell division; it may spread to other parts of the body through the lymphatic system or the blood stream.
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.
Megacolon
A huge, swollen colon. Results from severe constipation. In children, megacolon is more common in boys than girls. See also Hirschsprung's Disease.
SIMILAR TERMS--------------------------------------
Carteolol hcl
Carteolol hcl is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): carteolol hydrochloride.
Cartersville Medical Center
Cartersville Medical Center is a hospital in Cartersville, Georgia (USA).
Cartia xt
Cartia xt is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): diltiazem hydrochloride.
Cartilage
A firm, flexible connective tissue. In vertebrates, the cartilage forms the skeleton in the early stages of development, after which it is largely replaced by bone. Some cartilage remains at the joints to give flexibility and support.
Cartrol
Cartrol is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): carteolol hydrochloride.
PREVIOUS AND NEXT TERMS--------------------------------------
Carotid body
A small "body" of tissue rich in capillaries, at the spot the carotid artery branches in the neck, containing cells that sense the oxygen and carbon dioxide levels in blood and from which messages are dispatched to the medulla (in the brain) to regulate the heart rate.
Carotid stenosis
Abnormal narrowing of the carotid artery, often a preamble to a stroke.
Carpal bone
One of the wrist bones. There are eight carpal bones that are arranged in two rows.
Carpal tunnel release
A surgical procedure to relieve pressure exerted on the median nerve within the carpal tunnel (the carpal tunnel syndrome). The median nerve is pinched in the wrist as it passes through the carpal tunnel. The buildup of scar tissue inside the carpal tunnel leads to this problem. Treatment options include splinting, anti-inflammatory agents, and surgery. The surgical release is performed via a small incision using conventional surgery or a fiberoptic scope (endoscopic carpal tunnel repair).
Carrier test
A test designed to detect carriers of a gene for recessive genetic disorder. For example, carrier testing is done for sickle cell trait, thalassemia trait, and the Tay-Sachs gene.
Cartilage hair hypoplasia syndrome
Cascade
A sequence of successive activation reactions involving enzymes (enzyme cascade) or hormones (hormone cascade) characterized by a series of amplifications of an initial stimulus. In blood coagulation, for example, each enzyme activates the next until the final product, the fibrin clot, is reached.
Case-fatality proportion
The number of cases of a disease ending in death compared to the number of cases of the disease. Usually expressed as a percentage.
Case-to-infection ratio
The ratio of the number of cases of a disease compared to the number of infections with the agent that causes the disease. Also called the case-to-infection proportion.
Casein
The main protein found in milk and other dairy products.
Cashew allergy
An allergic reaction to cashew nuts. Cashew allergy can be isolated, meaning that the individual is only allergic to cashews and not to other nuts, or the allergy may extend to other kinds of tree nuts such as walnuts and pistachios. Isolated cashew allergy can strike children or adults. No prior exposure to cashews is required for an allergic reaction to cashews.
RELATED TERMS--------------------------------------
Genetic
Hereditary. Having to do with the genes.
Dwarfism
A deficiency of growth hormone resulting in short stature.
Chest
The area of the body located between the neck and the abdomen. The chest contains the lungs, the heart and part of the aorta. The walls of the chest are supported by the dorsal vertebrae, the ribs, and the sternum.
Tibia
The segment of the leg between the femur and the tarsus.
Fibula
Smaller of the two bones in the lower leg; runs from the knee to the ankle along the outside of the lower leg.
Biopsy
Surgical removal of a piece of tissue from a person for microscopic examination to make a diagnosis (eg to determine whether abnormal cells such as cancer cells are present).
Hypoplasia
Underdevelopment of a tissue or organ usually due to a decrease in the number of cells.
Cartilage
A firm, flexible connective tissue. In vertebrates, the cartilage forms the skeleton in the early stages of development, after which it is largely replaced by bone. Some cartilage remains at the joints to give flexibility and support.
Chickenpox
A viral disease that usually begins with fever and cough, followed by a rash that progresses from red bumps to blisters to scabs. A vaccine is available to prevent this disease. Also called varicella or varicella zoster.
Lymphopenia
A reduction, relative or absolute, in the number of lymphocytes in the circulating blood.
Anemia
Anemia is a condition in which a deficiency in the size or number of erythrocytes (red blood cells) or the amount of hemoglobin they contain limits the exchange of oxygen and carbon dioxide between the blood and the tissue cells. Most anemias are caused by a lack of nutrients required for normal erythrocyte synthesis, principally iron, vitamin B-12, and folic acid. Others result from a variety of conditions, such as hemorrhage, genetic abnormalities, chronic disease states or drug toxicity.
Neutropenia
Neutropenia refers to an abnormal decrease in the number of neutrophils in the blood.
Blood
The life-maintaining fluid which is made up of plasma, red blood cells (erythrocytes), white blood cells (leukocytes), and platelets; blood circulates through the body's heart, arteries, veins, and capillaries; it carries away waste matter and carbon dioxide, and brings nourishment, electrolytes, hormones, vitamins, antibodies, heat, and oxygen to the tissues.
Malignancy
A tendency to worsen to a more serious illness or death. Commonly used to describe cancer.
Risk
In clinical trials, the probability of harm or discomfort for subjects, arising from the test product. Acceptable risk differs depending on the condition for which a product is being tested. A product for sore throat, for example, will be expected to have a low incidence of side effects. However, unpleasant side effects may be an acceptable risk when testing a promising treatment for a life-threatening illness.
Lymphoma
Cancer of the lymphoid tissues. Lymphomas are often described as being large cell or small cell types, cleaved or non-cleaved, or diffuse or nodular. The different types often have different prognoses. Lymphomas can also be referred to by the organs where they are active, such as CNS lymphomas, which are in the central nervous system, and GI lymphomas, which are in the gastrointestinal tract. The types of lymphomas most commonly associated with HIV infection are called non-Hodgkin's lymphomas or B cell lymphomas. In these types of cancers, certain cells of the lymphatic.
Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).
Cancer
Any malignant growth or tumor caused by abnormal and uncontrolled cell division; it may spread to other parts of the body through the lymphatic system or the blood stream.
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.
Megacolon
A huge, swollen colon. Results from severe constipation. In children, megacolon is more common in boys than girls. See also Hirschsprung's Disease.
SIMILAR TERMS--------------------------------------
Carteolol hcl
Carteolol hcl is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): carteolol hydrochloride.
Cartersville Medical Center
Cartersville Medical Center is a hospital in Cartersville, Georgia (USA).
Cartia xt
Cartia xt is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): diltiazem hydrochloride.
Cartilage
A firm, flexible connective tissue. In vertebrates, the cartilage forms the skeleton in the early stages of development, after which it is largely replaced by bone. Some cartilage remains at the joints to give flexibility and support.
Cartrol
Cartrol is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): carteolol hydrochloride.
PREVIOUS AND NEXT TERMS--------------------------------------
Carotid body
A small "body" of tissue rich in capillaries, at the spot the carotid artery branches in the neck, containing cells that sense the oxygen and carbon dioxide levels in blood and from which messages are dispatched to the medulla (in the brain) to regulate the heart rate.
Carotid stenosis
Abnormal narrowing of the carotid artery, often a preamble to a stroke.
Carpal bone
One of the wrist bones. There are eight carpal bones that are arranged in two rows.
Carpal tunnel release
A surgical procedure to relieve pressure exerted on the median nerve within the carpal tunnel (the carpal tunnel syndrome). The median nerve is pinched in the wrist as it passes through the carpal tunnel. The buildup of scar tissue inside the carpal tunnel leads to this problem. Treatment options include splinting, anti-inflammatory agents, and surgery. The surgical release is performed via a small incision using conventional surgery or a fiberoptic scope (endoscopic carpal tunnel repair).
Carrier test
A test designed to detect carriers of a gene for recessive genetic disorder. For example, carrier testing is done for sickle cell trait, thalassemia trait, and the Tay-Sachs gene.
Cartilage hair hypoplasia syndrome
Cascade
A sequence of successive activation reactions involving enzymes (enzyme cascade) or hormones (hormone cascade) characterized by a series of amplifications of an initial stimulus. In blood coagulation, for example, each enzyme activates the next until the final product, the fibrin clot, is reached.
Case-fatality proportion
The number of cases of a disease ending in death compared to the number of cases of the disease. Usually expressed as a percentage.
Case-to-infection ratio
The ratio of the number of cases of a disease compared to the number of infections with the agent that causes the disease. Also called the case-to-infection proportion.
Casein
The main protein found in milk and other dairy products.
Cashew allergy
An allergic reaction to cashew nuts. Cashew allergy can be isolated, meaning that the individual is only allergic to cashews and not to other nuts, or the allergy may extend to other kinds of tree nuts such as walnuts and pistachios. Isolated cashew allergy can strike children or adults. No prior exposure to cashews is required for an allergic reaction to cashews.
We thank you for using the Medical Glossary to search for Cartilage hair hypoplasia syndrome. If you have a better definition for Cartilage hair hypoplasia syndrome than the one presented here, please let us know by making use of the suggest a term option. This definition of Cartilage hair hypoplasia syndrome may be disputed by other professionals. Our attempt is to provide easy definitions on Cartilage hair hypoplasia syndrome and any other medical topic for the public at large.
This dictionary contains 19186 terms.
|
|