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Spondyloepimetaphyseal Dysplasia Type Strudwick 

SMD


Presentation

  • Presentation on theme: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA (STRUDWICK TYPE) Emily Walls & Zach Witherspoon.[slideplayer.com]
  • The children were judged to be of average intelligence; earlier, mental retardation was thought to be present and to distinguish their disorder from Strudwick dysplasia.[bio2rdf.org]
  • Strudwick type SMED type 1 SMED type I Spondyloepiphyseal dysplasia congenita with dappled metaphyses Spondylometaepiphyseal dysplasia congenita, Strudwick type Spondylometaphyseal dysplasia Strudwick syndrome Keywords Any medical or genetic information present[uniprot.org]
  • The documents contained in this web site are presented for information purposes only. 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]
  • Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.[ghr.nlm.nih.gov]
El Salvador
  • El Salvador : La Libertad, San Salvador, etc. Equatorial Guinea : Malabo, etc. Eritrea : Asmara, etc. Estonia : Haapsalu, Kuressaare, Narva, Pärnu, Saaremaa, Tallinn, Tartu, etc. Ethiopia : Addis Ababa, Bahir Dar, Gondar, etc.[maria-online.com]
Congestive Heart Failure
  • heart failure 438 Pulmonary edema or congestion with normal or slightly enlarged heart 439 Cor pulmonale General overview 440 Azygos or hemiazygos vein enlargement 441 Asplenia syndrome 442 Systemic hypertension in childhood General overwview 443 Surgical[books.google.com]
Heart Failure
  • failure in infancy and childhood Various entities B 331 Unilateral pulmonary edema 332 Pulmonary hemorrhage in the older infant 333 Honeycomb pattern of the lungs As a late phase of the lung disease 334 Bronchiectasis 335 Pneumatocele 336 A cystlike[books.google.com]
Hepatomegaly
  • […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric age 520 حقوق النشر[books.google.com]
Coxa Vara
  • Definition A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and[uniprot.org]
  • vara, clubfoot, and abnormal epiphyses or metaphyses).[rarediseases.info.nih.gov]
  • TYPE, SPONDYLOMETAPHYSEAL DYSPLASIA; SMD, STRUDWICK SYNDROME Classification bone, developmental, genetic Phenotypes Anterior rib cupping ; Autosomal dominant inheritance ; Brachydactyly ; C1-C2 subluxation ; Cleft palate ; Club-shaped proximal femur ; Coxa[mousephenotype.org]
  • Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning[ghr.nlm.nih.gov]
Lordosis
  • Definition A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and[uniprot.org]
  • […] dysplasia congenita, Strudwick type Disease definition Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis[orpha.net]
  • Affected individuals may have an abnormally curved lower back ( lordosis ) or a spine that curves to the side ( scoliosis ). This abnormal spinal curvature may be severe and can cause problems with breathing.[ghr.nlm.nih.gov]
  • […] nose * Flat nose * Eye problems * Severe nearsightedness * Impaired breathing * Enlarged liver * Enlarged spleen * Protruding abdomen * Delayed growth * Delayed motor milestones * Lax joints * Inability to fully extend elbows * Coxa vara * Knock-knee * Lordosis[checkorphan.org]
  • Curvature of the spine (scoliosis and lumbar lordosis) may be severe and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage.[en.wikipedia.org]
Small Foot
  • The vertical arrangement allows the drive train to be entirely supported by the mill body which leads to a small foot print and simple foundation. Also, the vertical arrangement does not require any slurry seals or inlet feed pressure.[metso.com]
Broad and Flat Nose
  • The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue Symptoms - Strudwick syndrome * Short trunk * Short extremities * Broad nose * Flat nose * Eye problems * Severe nearsightedness * Impaired[checkorphan.org]
Withdrawn
  • […] symbols: AOM, SEDC, STL1 ) Mouse Orthologs Col2a1 (Withdrawn symbols: Col2a, Col2a-1, Dmm, Lpk, Rgsc413, Rgsc856 ) Source OMIM:184250 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology[mousephenotype.org]
Impulsivity
Average Intelligence
  • The children were judged to be of average intelligence; earlier, mental retardation was thought to be present and to distinguish their disorder from Strudwick dysplasia.[bio2rdf.org]

Workup

Atelectasis
  • […] chest in the newborn 283 Unilateral hyperlucent thorax in the newborn 284 Coarse parenchymal markings with irregular bilateral changes and hyperinflation in the newborn 285 Cystlike structures in the lung parenchyma of the newborn 286 Neonatal platlet atelectasis[books.google.com]
Enlargement of the Spleen
  • […] liver * Enlarged spleen * Protruding abdomen * Delayed growth * Delayed motor milestones * Lax joints * Inability to fully extend elbows * Coxa vara * Knock-knee * Lordosis * Hemangioma * Hernia * Foot malformations * Metaphyseal irregularities * Patchy[checkorphan.org]

Treatment

  • There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.[rarediseases.info.nih.gov]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • 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

  • Prognosis - Strudwick syndrome The \'prognosis\' of Strudwick syndrome usually refers to the likely outcome of Strudwick syndrome.[checkorphan.org]
  • Prognosis ... Type of inheritance ...[ibis-birthdefects.org]
  • Prognosis is variable and depends on the location and size of the lesion. Due to the risk of recurrence, patients with this unusual dysplasia should be monitored on a regular basis. 42.[slideshare.net]
  • The role of detectable somatic gene mutations in prognosis and tailoring therapy continue to emerge.[premierendpoint.com]
  • Course and prognosis In severe cases, short stature, prominent knees, cleft palate and clubfeet are noted at birth. Chronic otitis media, hearing loss, myopia and retinal detachment are major complications.[raredisorders.imedpub.com]

Etiology

  • Etiology This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2). Genetic counseling It is inherited in an autosomal dominant manner. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Etiology This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2). Genetic counseling It is inherited in an autosomal dominant manner. Last updated: 9/30/2009 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
  • […] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology[books.google.com]
  • Etiology ... Classification ... Clinical features ... Diagnosis and differential diagnosis ... Associated anomalies ... Prognosis ... Type of inheritance ...[ibis-birthdefects.org]

Epidemiology

  • ORPHA:93346 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: - ICD-10: Q77.7 OMIM: 184250 UMLS: C0700635 MeSH: - GARD: 134 MedDRA: - Summary Epidemiology The syndrome has been described in less than 30 patients so far.[orpha.net]
  • Epidemiology The syndrome has been described in less than 30 patients so far. Clinical description Cleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life.[rarediseases.info.nih.gov]
  • Epidemiology [ edit ] In the US, the estimated prevalence of Stickler syndrome is about 1 in 10,000 people, but it can affect as little as 1 in 100,000 in other areas of the world. [ citation needed ] History [ edit ] Scientists associated with the discovery[en.wikipedia.org]
  • Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010).[centogene.com]
Sex distribution
Age distribution

Pathophysiology

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  • 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]
  • The pathophysiological premise that justifies its use as a therapeutic option in patients with CTS is still controversial 38.[scielo.br]
  • Defining the targets of this miRNAs gene will give a deeper understanding of the pathophysiology and complex genetics of GSD.[academic.oup.com]
  • […] has been described very rarely in patients with early-onset disease. [6] Leiomyomas, tumours of smooth muscle affecting the oesophagus and female genital tract, may occur in a rare overlap syndrome involving the adjacent COL4A5 and COL4A6 genes. [10] Pathophysiology[en.wikipedia.org]

Prevention

  • Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of spondyloepimetaphyseal dysplasia, Strudwick type.[ghr.nlm.nih.gov]
  • Prevention - Strudwick syndrome Not supplied. Diagnosis - Strudwick syndrome Not supplied. Prognosis - Strudwick syndrome The \'prognosis\' of Strudwick syndrome usually refers to the likely outcome of Strudwick syndrome.[checkorphan.org]
  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.[en.wikipedia.org]
  • The wet solder paste will act as a temporary adhesive but it is still important to ensure that the boards are moved gently to prevent misalignment.[seeedstudio.com]

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