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Spondyloepimetaphyseal Dysplasia Type Missouri

Maroteaux-Verloes-Stanescu Syndrome


Presentation

  • Acronym SEMD-MO Synonyms Spondyloepimetaphyseal dysplasia type 2 Spondyloepimetaphyseal dysplasia type Missouri Spondylometaepiphyseal dysplasia type Missouri Any medical or genetic information present in this entry is provided for research, educational[uniprot.org]
  • Practical tables provide a quick reference to essential information, including normal developmental anatomic milestones, developmental anomalies, common presentations and symptoms of diseases, and much more. 400 new and replacement images are added to[books.google.com]
  • In addition, MMP-13 contains in its amino acid sequence several residues specific to the collagenase subfamily (Tyr-214, Asp-235, and Gly-237) and lacks the 9-residue insertion present in the stromelysins (Freije J.M. et al., 1994).[genwaybio.com]
  • Patient 2 presented at age 7 years and 5 months for evaluation of abnormal gait and skeletal dysplasia.[nature.com]
  • 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]
Coxa Vara
  • Spondyloepimetaphyseal dysplasia Missouri type: A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum[malacards.org]
  • An autosomal dominant (OMIM:602111) bone disease characterised by moderate to severe metaphyseal changes, mild epiphyseal involvement (both of which improve with age), rhizomelic shortening of the legs with femoral and/or tibial bowing, coxa vara, genu[medical-dictionary.thefreedictionary.com]
  • Definition A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood[uniprot.org]
  • vara / coxa plana - Osteoarthritis - Rhizomelic micromelia - Short stature / dwarfism / nanism Occasional - Restricted joint mobility / joint stiffness / ankylosis[csbg.cnb.csic.es]
Platyspondyly
  • These pearshaped vertebrae in early childhood evolve to mild platyspondyly with irregular superior and inferior margins in adults.[semanticscholar.org]
  • […] sclerotic endplates 0008476 Limited elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Metaphyseal cupping 0003021 Platyspondyly[rarediseases.info.nih.gov]
Extension of Elbows Limited
  • Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Metaphyseal cupping 0003021 Platyspondyly Flattened vertebrae 0000926 Radial bowing Bowing of outer[rarediseases.info.nih.gov]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Limitation of joint mobility Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ] 0001376 Percent of people who have[rarediseases.info.nih.gov]
Joint Limitation
  • Limited joint mobility Limited joint motion [ more ] 0001376 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development[rarediseases.info.nih.gov]

Treatment

  • There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.[rarediseases.info.nih.gov]
  • 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]
  • Take advantage of expanded coverage of small molecule treatment, biologics, biomarkers, epigenetics, biosimilars, and cell-based therapies.[books.google.com]

Prognosis

  • […] expression of this protein can serve as a marker for tumor invasiveness, as its expression is induced during metastasis of multiple types of cancers, including squamous cell carcinomas of the head and neck, and this expression is usually linked to poor prognosis[sigmaaldrich.com]

Etiology

  • Etiology This condition is caused by mutation in the MMP13 gene ( locus 11q22.3) and transmitted in an autosomal dominant manner. Last updated: 11/15/2009 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
  • All cases are sporadic, and the etiology remains unknown. Distinctive features of DSC are anisospondyly and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tubular bones.[unboundmedicine.com]
  • Etiology This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner. The documents contained in this web site are presented for information purposes only.[orpha.net]

Epidemiology

  • Spondyloepimetaphyseal dysplasia type 2 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]
  • Epidemiology The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations.[rarediseases.info.nih.gov]
  • ORPHA:93356 Synonym(s): SEMD type 2 SEMD, Missouri type Spondyloepimetaphyseal dysplasia type 2 Prevalence: Inheritance: Autosomal dominant Age of onset: - ICD-10: Q77.7 OMIM: 602111 UMLS: C1865832 MeSH: - GARD: 10618 MedDRA: - Summary Epidemiology The[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11.[mybiosource.com]

Prevention

  • Our multidisciplinary approach provides a forum for diagnosis, prevention and treatment. Most children who attend the Missouri Skeletal Dysplasia Clinic are seen on a regular basis, depending on individual needs.[muhealth.org]
  • Unfortunately, it is not possible to prevent all types of dysplasia but avoiding some risk factors may help in some cases. Dysplasia can occur in any area of the body. It can also accompany other disorders.[medicalnewstoday.com]
  • Medical care for individuals with skeletal dysplasia should be directed at preventing neurologic and orthopedic complications due to spinal cord compression, joint instability, and long bone deformity.[emedicine.medscape.com]
  • Alternatively, nonsense-mediated decay of abnormal transcripts would be expected to prevent translation of protein. The variant was submitted to the Leiden Open Variation Database (LOVD, ).[nature.com]
  • To prevent any sample cross contamination, a unique sample tracking control is added into each patient sample. Each labeled patient product is then purified, quantified, and combined with the same amount of reference product.[preventiongenetics.com]

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