Achondroplasia: Difference between revisions
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== Prevalence == | == Prevalence == | ||
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."<ref name="Waller et al">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).</ref><br> | 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."<ref name="Waller et al">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).</ref> June et al found that "approximately 98% of patients with achondroplasia have a mutation resulting from G-to-A substitution in the ''FGFR3'' gene; the majority of cases result from a sporadic, de novo mutation."<ref name="June et al" /> Almost all of the cases of achondroplasia, therefore, are a result of a gene mutation during development in the womb. <br> | ||
== Characteristics/Clinical Presentation == | == Characteristics/Clinical Presentation == | ||
Revision as of 04:26, 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] June et al found that "approximately 98% of patients with achondroplasia have a mutation resulting from G-to-A substitution in the FGFR3 gene; the majority of cases result from a sporadic, de novo mutation."[1] Almost all of the cases of achondroplasia, therefore, are a result of a gene mutation during development in the womb.
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]
Some studies have also looked at the effect of the parents' age and the increased prevalence of achondroplasia. "In Texas, fathers that were 25-29, 30-34, 35-39, and greater than or equal to 40 years of age had significantly increased rates of de novo achondroplasia among their offspring compared with younger fathers." [2]
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 1.2 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).
- ↑ 2.0 2.1 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).
