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syndrome, tar TAR stands for Thrombocytopenia (low blood platelets) and aplasia (absence) of the radius (the long bone on the thumb-side of the forearm), features characterizing this syndrome. There is phocomelia more than (flipper-limb) with the thumbs always present. The fibula (the smaller bone in thye lower leg) is often absent. The risk of bleeding from too few platelets is high in early infancy but lessens with age. The condition is inherited in an autosomal recessive trait with one gene (on a non-sex chromosome) coming from each parent to the tar child. Alternative names include more than thrombocytopenia-absent radius syndrome, radial aplasia-thrombocytopenia syndrome, and tetraphocomelia-thrombocytopenia syndrome.
(12 Dec 1998)
syndrome, tempero-mandibular joint Disorder of the temporo-mandibular joint(tmj) causing pain usually in front of the ear. Pain in the tmj can be due to trauma (such as a blow to the face), inflammatory or degenerative arthritis, or by the mandible being pushed back towards the ears whenever the patient chews or swallows. Sometimes, muscles around the tmj used for chewing can go into spasm, causing head and neck pain and difficulty opening the mouth normally.
(12 Dec 1998)
syndrome, tetraphocomelia-thrombocytopenia See syndrome, tar.
(12 Dec 1998)
syndrome, third and fourth pharyngeal pouch See syndrome, digeorge.
(12 Dec 1998)
syndrome, thoracic outlet Condition due to compromise of blood vessels or nerve fibres between the armpit (axilla) and base of the neck.
(12 Dec 1998)
syndrome, thrombocytopenia-absent radius See Syndrome, TAR.
(12 Dec 1998)
syndrome, tmj Disorder of the temporo-mandibular joint (tmj) causing pain usually in front of the ear. Pain in the tmj can be due to trauma (such as a blow to the face), inflammatory or degenerative arthritis, or by the mandible being pushed back towards the ears whenever the patient chews or swallows. Sometimes, muscles around the tmj used for chewing can go into spasm, causing head and neck pain and difficulty opening the mouth normally.
(12 Dec 1998)
syndrome, toxic shock A grave condition occurring predominantly in menstruating women using tampons, toxic shock is characterised by a highly toxic state (with sudden high fever, vomiting, diarrhoea, muscle aching) followed by low blood pressure (hypotension) which can lead to shock (and death). There may be a rash resembling sunburn with peeling of skin. The channing laboratory in boston under dr. Edw. Kass discovered that toxic shock was due to a toxin produced by staph (staphylococcus) aureus bacteria growing under conditions with little or no oxygen. The syndrome occurs rarely in women not using tampons and in men.
(12 Dec 1998)
syndrome, trisomy 13 Condition with three rather than the normal two chromosomes 13. Children born with this syndrome have multiple malformations and mental retardation due to the extra chromosome 13. The congenital malformations (birth defects) commonly include scalp defects, more than haemangiomas more than (blood vessel malformations) of the face and nape of the neck, cleft lip more than and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits. The mental retardation is profound. The iq is untestably low. The majority of trisomy 13 babies die soon after birth or in infancy. The condition is also called patau syndrome after the late geneticist klaus patau more than (at the university of wisconsin) who discovered the extra chromosome in 1960.
(12 Dec 1998)
syndrome, trisomy 18 There are three instead of the normal two chromosomes 18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome 18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with the iq too low to edven test. Nineteen out of 20 (95%) of these children die before their first birthday. The condition is also called edwards syndrome in honor of the british physician and geneticist john edwards who discovered the extra chromosome in 1960.
(12 Dec 1998)
syndrome, trisomy 21 A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). The syndrome causes mental retardation, a characteristic face, and multiple malformations. It is associated with a major risk for heart problems, a lesser risk of duodenal atresia (part of the intestines not developed), and a minor but still significant risk of acute leukaemia. Trisome 21 syndr0ome is also commonly called down syndrome after the 19th century english doctor langdon down who was curiously enough not the first person to describe the condition, added little to knowledge and, in great error, attributed the condition to a reversion to the mongoloid race. The disorder was also once called mongolism, a term now considered slang.
(12 Dec 1998)
syndrome, turner-kieser See nail-patella syndrome turner in 1933 described two families with the disease. The name turner is more closely associated with the xo syndrome.
(12 Dec 1998)
syndrome, von hippel-lindau The cardinal features of von hippel-lindau (vhl) syndrome are benign blood-vessel tumours that most typically affect the eye and the brain. The eye tumours are termed angiomata and are in the retina. The brain tumours are termed haemangioblastoma and are in the cerebellum. Vhl is complex. There can also be blood-vessel tumours (haemangiomata) in the spinal cord, adrenal glands, liver, and lungs. Pheochromocytoma (a benign tumour of adrenal-like tissue) occurs in some patients. The combination of high blood pressure (hypertension) with angioma may cause bleeding under the skull (subarachnoid haemorrhage). Kidney tumours (like hypernephromas) may be malignant and metastasize. An abnormal elevation of red blood cells (polycythemia) can be due to the haemangioblastoma of the cerebellum or the hypernephroma. Multiple cysts can occur in the pancreas and kidneys. Patients with kidney problems or pancreatic cysts do not have pheochromocytoma, and visa versa. Lab findings in vhl may include high calcium (hypercalcaemia) and low potassium (hypokalaemia) occurring with the pheochromocytoma. Vhl is inherited as an autosomal dominant trait. The gene on one of the non-sex chromosomes is dominant over the normal gene with which it is paired so that one vhl gene is sufficient to cause the vhl syndrome. If a person has vhl, the chance for each of their children to receive the vhl gene is one-half (50%). The vhl gene has been mapped to chromosome 3 (the 3rd volume in the book of life) in region 3p26-p25. The vhl gene has the characteristics of a tumour-suppressor gene. The person with vhl inherits one inactive copy of the vhl gene (a germline mutation) from one of their parents. But the normal gene with which it is paired is still enough to suppress the formation of a tumour. Then, in one cell in the vhl patient's body, another mutation (a somatic mutation) occurs, inactivating the vhl gene. Thus, both copies of the vhl gene are inactivated and a tumour arises in the vhl patient. The syndrome is named for the german ophthalmologist eugen von hippel who described the charcteristic eye blood-vessel tumours in 1904 and the swedish pathologist arvid lindau who recognised the association between the eye tumours and the blood-vessel tumours of the cerebellum and other parts of the central nervous system in 1926-7.
(12 Dec 1998)
syndrome, yeast The yeast Candida has been thought to cause a syndrome with a number of non-specific problems including fatigue, loss of appetite, headache, short-attention span, depression and all manner of intestinal irregularities. There is no scientific evidence to support the existence of the yeast syndrome (also called the yeast connection).
(12 Dec 1998)
syndromes of paranasal sinuses <radiology> Gardner: osteomas, Kartagener: chronic infection, basal cell-nevoid, neurofibromatosis, Down (trisomy 21): hypoplastic frontal, sphenoid, with or without ethmoid, progeria: absent frontal sinuses; dwarf, immature, cleidocranial dysostosis: all sinuses absent/small
(12 Dec 1998)
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syndrome X Also known as the metabolic syndrome, with insulin resistance, glucose intolerance, dyslipidemia, and hypertension as its hallmarks. Patients have visceral obesity. The cardiologic syndrome X is microvascular angina. The link between the two syndromes may be insulin resistance (see Metabolic Syndrome)
Ãâó: www.lipoprofile.com/control.cfm
syndrome A collection of symptoms that characterize a specific disease or condition.
Ãâó: www.painconnection.org/MyTreatment/MayoClinic_glos...
syndrome refers to a constellation of signs (what the examiner sees) and symptoms (what the patient reports) that recur regularly in clinical populations
Ãâó: www.therubins.com/geninfo/Definit.htm
syndrome A set of features or symptoms often occurring together and believed to stem from the same cause.
Ãâó: www.nutropin.com/patient/u_8_glossary.jsp
syndectomy The excision of a circular strip of the conjunctiva around the cornea to relieve pannus. SYN: peritomy (1).
Ãâó:
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