Achondroplasias
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  Achondroplasias



Achondroplasias

   An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

RELATED TERMS
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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. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "

Dominant
A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes). A dominant trait is opposed to a recessive trait which is expressed only when two copies of the gene are present. (In genetic terms, a recessive trait is one that is phenotypically expressed only in homozygotes).

Dwarfism
A deficiency of growth hormone resulting in short stature.

Facies
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of Williams syndrome or the mongoloid facies of Down syndrome. (Random House Unabridged Dictionary, 2d ed)

Frontal
In anatomy, pertaining to the forehead. As, for example, the frontal bone, frontal sinus, and frontal nerve.

Hypoplasia
Underdevelopment of a tissue or organ usually due to a decrease in the number of cells.

Lumbar
Having to do with the lower back, the loins.

Lordosis
An exaggeration of the forward curve of the lower part of the back, sometimes called sway-back.

Elbow
The juncture of the long bones in the middle portion of the arm. The bone of the upper arm (humerus) meets both the ulna (the inner bone of the forearm) and radius (the outer bone of the forearm) to form a hinge joint at the elbow. The radius and ulna also meet one another in the elbow to permit a small amount of rotation of the forearm. The elbow therefore functions to move the arm like a hinge (forward and backward) and in rotation (outward and inward). The biceps muscle is the major muscle that flexes the elbow hinge, and the triceps muscle is the major muscle that extends it. The primary stability of the elbow is provided by the ulnar collateral ligament, located on the medial (inner) side of the elbow. The outer bony prominence of the elbow is the lateral epicondyle, a part of the humerus bone. Tendons attached to this area can be injured, causing inflammation or tendonitis (lateral epicondylitis, or tennis elbow). The inner portion of the elbow is a bony prominence called the medial epicondyle of the humerus. Additional tendons from muscles attach here and can be injured, likewise causing inflammation or tendonitis (medial epicondylitis, or golfer's elbow).

Extension
The process of straitening or the state of being strait. Extension of the hip and knee joints is necessary to stand up from the sitting position.

Genu
The Latin word for the knee. When the knee is referred to in medicine, it is just called the knee. However, the word "genu" is also used in medicine as in: genu recurvatum (hyperextension of the knee), genu valgum (knock knee) and genu varum (bowleg). The knee (or genu, if you are into Latin) is a joint which has three parts. The thigh bone (femur) meets the large shin bone (tibia) forming the main knee joint. This joint has an inner (medial) and an outer (lateral) compartment. The kneecap (patella) joins the femur to form a third joint, called the patellofemoral joint. The knee joint is surrounded by a joint capsule with ligaments strapping the inside and outside of the joint (collateral ligaments) as well as crossing within the joint (cruciate ligaments). These ligaments provide stability and strength to the knee joint.



SIMILAR TERMS
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Acholeplasma
A genus of gram-negative organisms including saprophytic and parasitic or pathogenic species.

Acholeplasma laidlawii
An organism originally isolated from sewage, manure, humus, and soil, but recently found as a parasite in mammals and birds.

Acholeplasmataceae
Gram-negative organisms including apparently free-living saprophytes as well as mammalian and avian parasites, and possibly pathogens.

Achondrogenesis
A genetic disorder of bonwe resulting in short-limbed dwarfism. There are a number of different types of achondrogenesis. See: Achondrogenesis type II.

Achondrogenesis type II
Severe inherited disorder of bone growth characterized by a short body and limbs and a lack of bone formation in the spine and pelvis.

Achondroplasia
An inherited form of short-limbed dwarfism.

Achoo syndrome
A disorder characterized by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually to brilliant sunlight. The number of successive sneezes is usually 2 or 3, but can be up to about 40. The achoo syndrome is also called the photic sneeze reflex or the helio-ophthalmic outburst syndrome.



PREVIOUS AND NEXT TERMS
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Aches, Neck
Discomfort or more intense forms of pain that are localized to the cervical region. This term generally refers to pain in the posterior or lateral regions of the neck.

Aches, Low Back
Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions.

Aches
An unpleasant sensation induced by noxious stimuli and generally received by specialized nerve endings.

Achalasias, Esophageal
Disorder of lower esophagogastric motility due to failure of the lower esophageal sphincter to relax with swallowing. It is sometimes caused by degeneration of the ganglion cells of the myenteric plexus or of the vagal motor nuclei.

Achromatium
A large group of aerobic bacteria which show up as pink (negative) when treated by the gram-staining method.

Achondroplasias

Acholeplasmataceae
Gram-negative organisms including apparently free-living saprophytes as well as mammalian and avian parasites, and possibly pathogens.

Acholeplasma laidlawii
An organism originally isolated from sewage, manure, humus, and soil, but recently found as a parasite in mammals and birds.

Acholeplasma
A genus of gram-negative organisms including saprophytic and parasitic or pathogenic species.

Achievements, Educational
Educational attainment or level of education of individuals.

Acid Agonists, gamma-Aminobutyric
Drugs that bind to and activate GAMMA-AMINOBUTYRIC ACID receptors (RECEPTORS, GABA).

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