Presentation
It has only one published source claiming its existence in three generations of one family from South Africa. [4] Contents 1 Presentation 2 Genetics 3 Management 4 Eponym 5 References 6 External links Presentation [ edit ] The disease is characterized [en.wikipedia.org]
Hip dysplasia-enchondromata-ecchondroma syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: No data available ICD-10: M91.8 OMIM: 191520 UMLS: C1860596 MeSH: C536472 GARD: 5421 MedDRA: - The documents contained in this web site are presented [orpha.net]
Training (DHET) SciELO SA Science Citation Index (Web of Science (WoS) Core Collection) Abstract HTML Metrics Related Content Abstract A new condition characterized by the presence of Perthes disease-like changes, enchondromata, and eccondromata is presented [journals.co.za]
Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.de]
Entire Body System
- Weakness
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DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. [checkrare.com]
Pain and poor posture due to spinal instability or muscle weakness can be effectively treated with the use of soft back braces. Bracing should always be used together with a training program to strengthen the back muscles. [maraisorthotists.co.za]
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- Swelling
To reduce swelling caused by either injury or chronic conditions. Reduce and manage swelling caused by the removal of lymph glands (a common problem following mastectomy surgery). Relieves symptoms of pain and tiredness in aching legs. [maraisorthotists.co.za]
Usually a person with this anomaly has no complaints; however, it may present as pain, swelling, or a snapping sound heard from the affected knee. [wikivisually.com]
People with the condition usually present with a painless swelling in the area of the clavicles at 2–3 years of age. [9] Common features are: Clavicles (collarbones) can be partly missing leaving only the medial part of the bone. [en.wikipedia.org]
- Short Stature
Symptoms such as syndactyly, cleft palate, short stature, and cardiac defects are seen more commonly in individuals with the autosomal recessive form of the disorder. A lethal form of the disorder has been reported. [en.wikipedia.org]
stature, and mental retardation - See Feingold Trainer syndrome Unusual facies, digital abnormalities, and ichthyosis - See Ichthyosis tapered fingers midline groove up Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped [rarediseases.info.nih.gov]
Gastrointestinal
- Failure to Thrive
Additional features in the cataract -microcephaly-failure to thrive-kyphoscoliosis syndrome (Camfak syndrome, OMIM 212540) include severe mental retardation, joint contractures, Perthes-like changes about the hips, and bilateral hip dislocation (Scott-Emuakpor [rrnursingschool.biz]
Neurologic
- Agitation
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Treatment
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If you or your child has been diagnosed with Upington disease, talk to your doctor about current treatment options. [diseaseinfosearch.org]
Only 16 percent of patients completed treatment or were cured and the rest either did not take their medicine, failed to respond to treatment or died before completing treatment. [iol.co.za]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
[ edit ] While Larsen syndrome can be lethal if untreated, the prognosis is relatively good if individuals are treated with orthopedic surgery, physical therapy, and other procedures used to treat the symptoms linked with Larsen syndrome. [7] See also [en.wikipedia.org]
Epidemiology
Prognosis [ edit ] Several studies have reported that life expectancy appears to be normal for people with CCD. [3] [21] [22] Epidemiology [ edit ] Cleidocranial dysostosis affects about one per million people. [1] Notable cases [ edit ] In 1987, a young [en.wikipedia.org]
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Prevention
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Hoping to prevent any possible epidemic, the WHO is working with local doctors and leading researchers to compile an information booklet on bilharzia. The waterborne parasite enters the skin and develops into worms that migrate throughout the body. [enca.com]
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