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Upington Disease

Hip Dysplasia - Enchondromata - Ecchondroma Syndrome


Presentation

  • ): 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]
  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.de]
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  • 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]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • The clinical division compromises of a “Prosthetist”, that is a person who evaluates, measures, designs, fabricates, fits, or services a prosthesis as prescribed by a licensed physician for the replacement of external parts of the human body lost due[orthoservices.co.za]
Dysostosis
  • 191520 MeSH : C536472 External resources Orphanet : 3408 v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality ( Q65–Q76, 754–756.3 ) Appendicular limb / dysmelia Arms clavicle / shoulder : Cleidocranial dysostosis[en.wikipedia.org]
  • ORPHANET - About rare diseases - About orphan drugs Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality ( Q65–Q76, 754–756.3 ) Appendicular limb / dysmelia Upper clavicle / shoulder : Cleidocranial dysostosis[worldjournals.org]
Arachnodactyly
  • […] recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity : varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly[en.wikipedia.org]
  • […] recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity : varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both dactyly / digit: Polydactyly / Syndactyly webbed toes Arachnodactyly[worldjournals.org]
Saddle Nose
  • Trigonocephaly Craniofacial dysostosis : Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other: Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle[en.wikipedia.org]
  • nose Vertebral column spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum : JNT (/,,, )/ noco (///)/, /,, drug (, )[worldjournals.org]
Coxa Vara
  • […] clavicle / shoulder : Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity : Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip : Dislocation of hip / Hip dysplasia Upington disease Coxa valga Coxa[en.wikipedia.org]
  • vara knee : Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity : varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers[crushus-2.crushus.com]
  • vara knee : Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity : varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both dactyly[worldjournals.org]
  • (From Naselli et al. 1998) physeal dysplasia, slipped capital femoral epiphysis, premature hip osteoarthritis, and coxa vara are common (Hoefnagel et al. 1967; Mena and Pearson 1976).[rrnursingschool.biz]
Arthralgia
  • Showing of 9 30%-79% of people have these symptoms Arthralgia Joint pain 0002829 Arthralgia of the hip Hip joint pain 0003365 Broad femoral neck 0006429 Enchondroma 0030038 Flat capital femoral epiphysis Flat end part of innermost thighbone 0003370 Premature[rarediseases.info.nih.gov]
  • Affiliated tissues include bone, and related phenotypes are arthralgia and enchondroma Wikipedia : 77 Upington disease, also called Perthes-like hip disease, enchondromata, ecchondromata, and familial... more...[malacards.org]
Foot Deformity
  • deformity : varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction[en.wikipedia.org]
  • deformity : varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both dactyly / digit: Polydactyly / Syndactyly webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Clubbed thumb reduction[worldjournals.org]
Genu Valgum
  • valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity : varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly[en.wikipedia.org]
  • valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity : varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both dactyly / digit: Polydactyly[worldjournals.org]
Dolichocephaly
  • Axial Skull and face Craniosynostosis : Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis : Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other: Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly[en.wikipedia.org]
  • […] syndrome Axial Craniofacial Craniosynostosis : Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis : Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher-Collins syndrome other: Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly[worldjournals.org]
Hypertelorism
  • […] limb: Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints: Arthrogryposis Larsen syndrome Rapadilino syndrome Axial Skull and face Craniosynostosis : Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis : Crouzon syndrome Hypertelorism[en.wikipedia.org]
  • limb: Acheiropodia ectromelia Phocomelia Amelia Hemimelia multiple joints: Arthrogryposis Larsen syndrome Rapadilino syndrome Axial Craniofacial Craniosynostosis : Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis : Crouzon syndrome Hypertelorism[worldjournals.org]

Treatment

  • We offer an alternative treatment process that centers around the idea of using your own adult stem cells as the basis of the treatment.[alternativetreatmentsfor.com]
  • 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]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

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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Sex distribution
Age distribution

Prevention

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  • Prevent excessive late summer (post-harvest) growth timeously. This can be done using the following management practices: Prevent high N applications on silty soil (no N fertilising!)[wineland.co.za]

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