| syndrome, nail-patella | Hereditary dominant condition with abnormally formed (dysplastic) or absent nails and absent or underdeveloped (hypoplastic) kneecaps (patellae). Other features include iliac horns (symmetrical bilateral central posterior iliac processes), abnormality of the elbows interfering with full range of motion (pronation and supination) and kidney disease resembling glomerulonephritis which.is often mild but can be progressive and lead to renal failure. The nail-patella gene locus found linked genetically to the abo blood group in1965 is now known to be in chromosome region 9q34. Also called onychoosteodysplasia, turner-kieser syndrome, and fong disease. (12 Dec 1998) |
|---|---|
| syndrome, nervous colon | See Syndrome, irritable bowel. (12 Dec 1998) |
| syndrome, pallister-killian | Condition with multiple malformations at birth and mental retardation due to isochromosome 12p mosaicism (an abnormal chromosome 12 in some cells). (12 Dec 1998) |
| syndrome, patau | Trisomy 13 syndrome or three chromosome number 13s instead of the normal two. Children with this condition have multiple malformations and mental retardation due to an extra chromosome 13 named after the late klaus patau who described the extra chromosome in 1960. This is trisomy 13 syndrome. There are three rather than the normal two chromosomes 13. Children with this syndrome have multiple malformations and mental retardation due to the extra chromosome 13. The malformations commonly include scalp defects, haemangiomas (blood vessel malformations) of the face and nape of the neck, cleft lip 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. Named after the late klaus patau who discovered the extra chromosome in 1960. (12 Dec 1998) |
| syndrome, pickwickian | The combination of obesity, somnolence, hypoventilation (underbreathing), and plethoric (red) face named after the fat and red-faced boy in a state of somnolency in charles dickens' novel the pickwick papers. (the same boy is thought by some to have had prader-willi syndrome). (12 Dec 1998) |
| syndrome, popliteal pterygium | An inherited condition with a web behind the knee. (a pterygium is a winglike triangular membrane.) (12 Dec 1998) |
| syndrome, prader-willi | A condition in children with floppiness (hypotonia), obesity, small hands and feet and mental retardation. It is due to loss of part or all of chromosome 15, specifcally the chromosome 15 from the father. The fat and red-faced boy in a state of somnolency described by charles dickens in his novel the pickwick papers is thought by some to have had prader-willi syndrome. (the same boy inspired the naming of the pickwickian syndrome). (12 Dec 1998) |
| syndrome, proteus | A disturbance of cell growth including benign tumours under the skin, overgrowth of the body, often more on one side than the other (hemihypertrophy), and overgrowth of fingers (macrodactyly). The syndrome is named after the greek god proteus the polymorphous who could change his appearance. The elephant man (john merrick) of 19th century england who was thought to have had neurofibromatosis probably had proteus syndrome. (12 Dec 1998) |
| syndrome, radial aplasia-thrombocytopenia | See syndrome, tar. (12 Dec 1998) |
| syndrome, reflex sympathetic dystrophy | A condition that features a group of typical symptoms, including pain (often burning type), tenderness, and swelling of an extremity associated with varying degrees of sweating, warmth and/or coolness, flushing, discoloration, and shiny skin. (12 Dec 1998) |
| syndrome, reiter's | A chronic form of inflammatory arthritis wherein the following three conditions are combined: (1) arthritis; (2) inflammation of the eyes (conjunctivitis); and (3) inflammation of the genital, urinary or gastrointestinal systems. (12 Dec 1998) |
| syndrome, reye's | A sudden, sometimes fatal, disease of the brain (encephalopathy) with degeneration of the liver, occurs in children (most cases 4-12 years of age), comes after the chickenpox (varicella) or an influenza-type illness, is also associated with taking medications containing aspirin. The child with reye's syndrome first tends to be unusually quiet, lethargic (stuporous), sleepy, and vomiting. In the second stage, the lethargy deepens, the child is confused, combative and delirious. And things get worse from there with decreasing consciousness, coma, seizures, and eventually death. The prognosis (outlook) depends on early diagnosis and control of the increased intracranial pressure. Reye's syndrome is a good reason to have your child immunised against chickenpox and not give a child aspirin for fever. (12 Dec 1998) |
| syndrome, scalded skin | See Scalded skin syndrome. (12 Dec 1998) |
| syndrome, shprintzen | Congenital malformation (birth defect) syndrome with cleft palate, heart defect, abnormal face, and learning problems.the condition is also called the velo-cardio-facial (vcf) syndrome. (the velum is the soft palate). Other less frequent features include short stature, small-than-normal head (microcephaly), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia. The cause is usually a microdeletion in chromosome band 22q11.2, just as in digeorge syndrome. Shprintzen and digeorge syndromes are different clinical expressions of essentially the same chromosome defect. Syndrome, stein-leventhal: known descriptively as polycystic ovarian disease (pco), this syndrome is basically an hormonal problem that causes women to have a variety of symptoms including irregular or no periods, acne, obesity and excessive hair growth. Women with pco are at a higher risk for uterine cancer (endometrial cancer), diabetes, high blood pressure, and heart disease. With proper treatment, risks can be minimised. The syndrome is named after the late american gynecologists irving f. Stein, sr. And michael leo leventhal. (12 Dec 1998) |
| syndrome, shulman's | A disease which leads to inflammation and thickening of the skin and fascia. (the fascia is a lining tissue under the skin that covers a surface of underlying tissues.) when the fascia is inflamed, the condition is referred to as fasciitis. In eosinophilic fasciitis, the involved fascia is inflamed with the eosinophil white blood cells. There is progressive thickening, and often redness and warmth, and hardness of the skin surface. (12 Dec 1998) |
| syndrome |
a set of characteristics that are seen together more frequently than by chance alone.
출처: www.cardiogenetics.org/glossary.asp
|
|---|---|
| syndrome |
a combination of signs and symptoms that occur together and reflect a particular disease.
출처: www.usurg.com/Glossary_terms.htm
|
| syndrome |
A set of symptoms which occur together: extended symptoms or involvement.
출처: www.rehabdesigns.com/medical_terms.htm
|
| syndrome |
The particular collection of physical features or characteristics in an individual which help to identify or characterise a genetic abnormality. A group of symptoms, occurring together, which characterise a disease.
출처: www.agsa-geneticsupport.org.au/glossary.html
|
| syndrome |
A syndrome is
출처: www.ucdmc.ucdavis.edu/children/services/cleft/heal...
|