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Multiple Epiphyseal Dysplasia due to Collagen 9 Anomaly

EDM3


Presentation

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • History Stickler syndrome classically presents in the pediatric population due to the characteristic facies associated with Pierre-Robin sequence.[eyewiki.aao.org]
  • CASE PRESENTATION: A 12-year-old Korean boy presented with intermittent knee pain. His height was 144.6 cm (20th percentile) and family history was notable for early-onset osteoarthritis in his father.[f1000.com]
  • At maturity a bony connection is present between the shaft and head of femur but in some cases pseudarthrosis is present in the femoral neck which does not heal Class B: Femoral head is present in an adequate acetabulum, the femur is short, usually a[flinders.edu.au]
  • Patients with MED typically present with some or all the following features [17] : Presentation late in childhood Pain in the hips, knees, or both Early fatigue after exercise Gait abnormalities Elbow flexion contractures Angular deformities in the lower[emedicine.medscape.com]
Rigor
  • By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs.[books.google.com]
  • Available with an optional extended, continuous perimeter bumper, this unit is designed to survive the rigors of typically heavy institutional use. The rugged, all stainless design ensures years of easy low maintenance.[plastoconinc.com]
  • Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity.[blueprintgenetics.com]
Multiple Congenital Anomalies
  • Female Affected MULTIPLE CONGENITAL ANOMALIES/DYSMORPHIC SYNDROME Clinical View 78051 Blood Female Affected MULTIPLE CONGENITAL ANOMALIES/DYSMORPHIC SYNDROME Clinical View Page 1 of 1 CALL FOR PROPOSALS[biobanknetwork.telethon.it]
  • Congenital Anomalies Syndrome Codas Syndrome Congenital Hypothyroidism Coxopodopatellar Syndrome Diastrophic Dwarfism Distal Monosomy 6p Dyggve-Melchior-Clausen Disease Dysostosis , Stanescu Type Epimetaphyseal Skeletal Dysplasia Erdheim-Chester Disease[familydiagnosis.com]
  • congenital anomalies-intellectual disability-autism spectrum disorder ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome[se-atlas.de]
Pathologist
  • All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.[books.google.com]
  • Gene Therapy) Affiliation Member of Royal College of Pathologists of Australasia. Associate 2006 - Journal of Medical Genetics. Member of editorial board 2005 - International Skeletal Dysplasia Society (ISDS).[findanexpert.unimelb.edu.au]
Difficulty Walking
  • walking Prognosis May live many years Early degenerative joint disease develops Death may occur before the age of 20 due to chest infections or cardiac complications 2.[flinders.edu.au]
Genu Valgum
  • valgum - Genu varum[csbg.cnb.csic.es]
  • Name Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly Synonyms - Classification bone, developmental, genetic Phenotypes Abnormality of epiphysis morphology ; Arthralgia ; Gait disturbance ; Genu valgum ; Genu varum ; Hip dysplasia ; Limitation[mousephenotype.org]
  • valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857 10 genu varum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002970 GenomeRNAi Phenotypes related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly according to GeneCards Suite gene[malacards.org]
  • Multiple other skeletal features include genu valgum, genu vara, or “windswept deformities” of the legs, limitations of elbow extension, ulnar deviation of the hand, scoliosis, and odontoid hypoplasia. Osteoarthritis and painful joints are common.[ommbid.mhmedical.com]
  • A milddegree of genu valgum is common. In older children and adults, there is concomitantulnar incurvation of the index finger and radial incurvation of the fifth finger ina bracket pattern.[documentslide.com]
Arthralgia
  • […] of death: - Type of inheritance: autosomal dominant External references: 3 OMIM references - No MeSH references Very frequent - Autosomal dominant inheritance - Epiphyseal anomaly - Osteoarthritis Frequent - Abnormal gait - Articular / joint pain / arthralgia[csbg.cnb.csic.es]
  • Name Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly Synonyms - Classification bone, developmental, genetic Phenotypes Abnormality of epiphysis morphology ; Arthralgia ; Gait disturbance ; Genu valgum ; Genu varum ; Hip dysplasia ; Limitation[mousephenotype.org]
  • […] hallmark (90%) Very frequent (99-80%) HP:0005930 3 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288 4 hip dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001385 5 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 6 arthralgia[malacards.org]
Coxa Valga
  • valga / coxa vara / coxa plana - Joint / articular deformation - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Occasional - Genu valgum - Genu varum[csbg.cnb.csic.es]
  • valga Coxa 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[liquisearch.com]
Hip Dislocation
  • Type of inheritance: autosomal dominant External references: 3 OMIM references - No MeSH references Very frequent - Autosomal dominant inheritance - Epiphyseal anomaly - Osteoarthritis Frequent - Abnormal gait - Articular / joint pain / arthralgia - Hip[csbg.cnb.csic.es]
  • : Dislocation of hip / Hip dysplasia Upington disease Coxa valga Coxa 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[liquisearch.com]
  • dislocation and acetabular dysplasia Also associated with spinal stenosis, scoliosis and kyphosis, atlanto-axial instability Cauliflower ears, cleft palate and hitch-hikers thumb X-Rays Short and thick long bones Distorted flattened epiphyses late ossification[flinders.edu.au]
Arthralgia
  • […] of death: - Type of inheritance: autosomal dominant External references: 3 OMIM references - No MeSH references Very frequent - Autosomal dominant inheritance - Epiphyseal anomaly - Osteoarthritis Frequent - Abnormal gait - Articular / joint pain / arthralgia[csbg.cnb.csic.es]
  • Name Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly Synonyms - Classification bone, developmental, genetic Phenotypes Abnormality of epiphysis morphology ; Arthralgia ; Gait disturbance ; Genu valgum ; Genu varum ; Hip dysplasia ; Limitation[mousephenotype.org]
  • […] hallmark (90%) Very frequent (99-80%) HP:0005930 3 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288 4 hip dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001385 5 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 6 arthralgia[malacards.org]
Withdrawn
  • […] symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED ) , COL9A2 (Withdrawn symbols: EDM2, MED ) , COL9A1 Mouse Orthologs Col9a3 (Withdrawn symbols: AV006866 ) , Col9a2 (Withdrawn symbols: AI427499, Col9a-2 ) , Col9a1 (Withdrawn symbols: Col9a-1 ) Source ORPHA[mousephenotype.org]
Waddling Gait
  • Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types.[cloud-clone.com]
  • Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms.[genecards.org]
Abnormal Gait
  • gait - Articular / joint pain / arthralgia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Joint / articular deformation - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short[csbg.cnb.csic.es]

Treatment

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Take advantage of expanded coverage of small molecule treatment, biologics, biomarkers, epigenetics, biosimilars, and cell-based therapies.[books.google.com]
  • Differential diagnosis The differential diagnosis includes other type II/XI collagenopathies: Knobloch syndrome Wagner syndrome Multiple epiphyseal dysplasia Kniest dysplasia (Metatropic dwarfism, type II) General treatment Treatment of Stickler syndrome[eyewiki.aao.org]
  • Drinking water treatment CONTACT A LOCAL DISTRIBUTOR[us.grundfos.com]

Prognosis

  • Gloomy prognosis [ Back to the Top ] Metaphyseal Dysplasias (hyperdysplasias) 1.[flinders.edu.au]
  • Prognosis There is currently no available data on long-term visual prognosis of Stickler syndrome; however, prophylactic treatment to prevent retinal detachment is expected to improve long term visual prognosis.[eyewiki.aao.org]
  • However, clinical characteristics and prognosis have not been elucidated for these two genotypes of MED.[link.springer.com]
  • Spine. (2002) [ Pubmed ] Prognosis of imparied glucose tolerance in children with stress hyperglycemia, symptoms of hypoglycemia, or asymptomatic glucosuria. Rosenbloom, A.L., Hunt, S.S. J.[wikigenes.org]
  • Molecular diagnosisis important for accurate prognosis and genetic counselling.and radiographic features, differentialdiagnosis and molecular basisSheila UngerStaff Geneticist and ESDN CoordinatorDepartment of Paediatrics and Institute of Human Genetics[documentslide.com]

Etiology

  • Etiology Types 1-4 Stickler syndrome are classically inherited in an autosomal dominant fashion [3], though a significant number of cases may be sporadic. [2] Risk Factors The only known risk factor for Stickler syndrome is a family history of the condition[eyewiki.aao.org]
  • Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet. 2001. 106(4):244-50. [Medline]. Jakkula E, Lohiniva J, Capone A, et al.[emedicine.medscape.com]
  • Unger S, Hecht JT (2001) Pseudoa-chondroplasia and multiple epiphysealdysplasia: new etiologic developments.Am J Med Genet 106:2442606. Lachman R, Sillence D, Rimoin D, et al(1981) Diastrophic dysplasia: the deathof a variant. Radiology 140:79867.[docslide.com.br]
  • The etiology of this rare form has not been established, but it does not result from mutations COL1A1(I) or COL1A2(I) which are the responsible disease genes for most dominant forms of OI.[nature.com]

Epidemiology

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Pseudoachondroplasia Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Address reprint requests to: Svetlana Solovieva, PhD, Department of Epidemiology and Biostatistics, Finnish Institute of Occupational Health, Topeliuksenkatu 41a A, 00250 Helsinki, Finland.[journals.lww.com]
  • Thoracic (Lower) & Lumbar: 90% Sacral: 4% Cervical 3% Left Right: 2:1 Feeding vessels Location: Often lumbar Number: Usually 1; Occasionally 2 or 3 Fistula in dorsolateral root sleeve High venous pressure in spinal cord Reduced spinal cord perfusion Epidemiology[neuromuscular.wustl.edu]
  • Relevant External Links for COL9A3 Genetic Association Database (GAD) COL9A3 Human Genome Epidemiology (HuGE) Navigator COL9A3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: COL9A3 No data available for Genatlas for COL9A3 Gene Molecular[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • The exact pathophysiological mechanism is unclear; however it is most probably associated with the expression of type II and IX collagen in the inner ear 2, 4.[centogene.com]
  • Pathophysiology Stickler syndrome is believed to be a direct result of abnormalities in the production of collagen types II, IX and XI, all of which are recognized as components of the human vitreous. [2] Normal collagen fibrils are composed of three[eyewiki.aao.org]
  • Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6.[nature.com]
  • Cartilage: Volume 2: Pathophysiology . 2017 Journal Articles Refereed Best practices in peri-operative management of patients with skeletal dysplasias . American Journal of Medical Genetics.[findanexpert.unimelb.edu.au]

Prevention

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention.[eyewiki.aao.org]
  • We strive to maximize children’s mobility, correct deformity, and prevent future complications.[nemours.org]
  • Genetic counseling can provide a patient and/or family with the natural history of Stickler syndrome, to identify at-risk family members, provide reproductive risks as well as possible preventive therapy or preconception/prenatal options, and allow for[centogene.com]
  • […] mineralisation if normal osteoid can be produced Cartilage formation is entirely lacking or very scant Treatment Bowing of the tibia pre fracture or a pre pseudarthrosis lesion is best treated initially with a total contact orthosis which may delay or prevent[flinders.edu.au]

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