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]

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]

History Stickler syndrome classically presents in the pediatric population due to the characteristic facies associated with Pierre-Robin sequence. [eyewiki.aao.org]

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]

• 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]

• Anxiety Disorder

  Within treatments, differences between completers and dropouts in minority status and the prevalence of anxiety disorders were most pronounced in MED [8]. [wikigenes.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• Withdrawn

  […] symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED ), COL9A2 (Withdrawn symbols: EDM2, MED ), COL9A1 Mouse Orthologs Col9a3 (Withdrawn symbols: AV006866 ), Col9a2 (Withdrawn symbols: AI427499, Col9a-2 ), Col9a1 (Withdrawn symbols: Col9a-1 ) Source ORPHA: [mousephenotype.org]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]

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]

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]

Drinking water treatment > CONTACT A LOCAL DISTRIBUTOR [us.grundfos.com]

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]

Poorest long-term prognosis 2. Oligoarticular JIA (previously known as pauciarticular JRA) = 30-40% 2. 3. 2-3 years; F>M. 4. A limp that improves during the day is typical. 5. 20% have uveitis. 6. [quizlet.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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

However, these procedures do not guarantee prevention of early onset osteoarthritis of the knee because the cartilage matrix defect originates from mutations of either MATN3 or COMP. [link.springer.com]