Achondroplasia: Difference between revisions
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== Etiology/Causes == | == Etiology/Causes == | ||
Achondroplasia is most commonly the result of a genetic anomaly from the fibroblast growth factor receptor-''3'' (''FGFR3'') gene. The gene is responsible for inhibiting osteoblasts, and in individuals with achondroplasia this mutation affects the epiphysial growth plates during development. "In endochondral bone development, the mutation increase the fibroblast growth factor receptor-''3'' signaling, which interferes with chondrocyte proliferation and differentiation, adversely affecting the epiphysial (growth) plates." <ref name="June et al" /><br> | |||
== Systemic Involvement == | == Systemic Involvement == | ||
Revision as of 04:19, 5 April 2011
Original Editors - Nora Richardson from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
Achondroplasia is a rare congenital disease which predominantly affects the long bones of the body. Most cases are from an autosomal dominant inherited fibroblast growth factor receptor-3 (FGFR3) gene which has been mutated. "In endochondral bone development, the mutation increases the firbroblast growth factor receptor-3 signaling, which interferes with chondrocyte proliferation and differentiation, adversely affecting the epiphysial (growth) plates."[1]
Prevalence[edit | edit source]
According to a study performed in 2008 by Waller and colleagues "the prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths."[2]
Characteristics/Clinical Presentation[edit | edit source]
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Associated Co-morbidities[edit | edit source]
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Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
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Etiology/Causes[edit | edit source]
Achondroplasia is most commonly the result of a genetic anomaly from the fibroblast growth factor receptor-3 (FGFR3) gene. The gene is responsible for inhibiting osteoblasts, and in individuals with achondroplasia this mutation affects the epiphysial growth plates during development. "In endochondral bone development, the mutation increase the fibroblast growth factor receptor-3 signaling, which interferes with chondrocyte proliferation and differentiation, adversely affecting the epiphysial (growth) plates." [1]
Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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- ↑ 1.0 1.1 June Yoshii, BS, and Vincent C, Traynelis, MD. Achondroplasia and cervical laminoplasty Case report. J Neurosurg Spine 2009; 11:417-420. http://thejns.org/doi/pdf/10.3171/2009.4.SPINE09164 (accessed on Apr 2011).
- ↑ Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 2008; 146A (18):2385-9. http://www.ncbi.nlm.nih.gov/pubmed/18698630 (accessed on Apr 2011).
