Achondroplasia An inherited form of short-limbed dwarfism.
A deficiency of growth hormone resulting in short stature.
A genus of gram-negative organisms including saprophytic and parasitic or pathogenic species.
An organism originally isolated from sewage, manure, humus, and soil, but recently found as a parasite in mammals and birds.
Gram-negative organisms including apparently free-living saprophytes as well as mammalian and avian parasites, and possibly pathogens.
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.
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)
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.
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Describes the alignment of the upper or lower teeth.
Loss of structure due to natural wear.
Radiological technique for measuring bone density. e.g. dual photon densitometry - DXA.
Angiotensin-Converting Enzyme. May find increased level in serum in sarcoidosis.
Inflammation of the achilles tendon - causing swelling and tenderness at the lower end of the calf to the heel.
Cyanotic changes occurring at the extremities (blue discolouration on exposure to cold).
Skin changes at the extremities typical of scleroderma.
A painful disorder in which there is evidence of overactivity of the sympathetic nervous system with trophic changes in skin.
Due to deficiency of homogentisic acid oxidase with features of ochronosis - pigmentation of articular cartilage, early osteoarthritis and calcification of intervertebral discs. Urine turns dark on standing.
A proteinaceous fibrillar material deposited at extracellular sites in various tissues and organs. The pattern of deposition varies according to whether it is the Primary or Secondary (to a chronic inflammatory disease) form.
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