Stephen J. Schueler, M.D.

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Chondrodysplasia Underlying Cause

Although achondroplasia is a genetic condition, it does not appear to be passed on directly from the parents. The gene mutation that causes achondroplasia seems to occur in the affected individual. This means that parents without achondroplasia, who have one child with achondroplasia, have a low risk of having a second child with achondroplasia. On the other hand, if one parent has achondroplasia and the other does not, there is a 50% chance that each child will have achondroplasia.

Molecular genetic testing can be used to detect a mutation in the FGFR3 gene. As many as 99% of individuals with achondroplasia will have a mutation of the FGFR3 gene.

Continue to Chondrodysplasia Genetics

Last Updated: Dec 29, 2008 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Chondrodysplasia References
  1. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007 Jul 14;370(9582):162-72. [17630040]
  2. Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005 Sep;116(3):771-83. Erratum in: Pediatrics. 2005 Dec;116(6):1615. [16140722]
  3. Tubbs RS, Oakes WJ. An unusual presentation of achondroplasia. Case report. J Neurosurg. 2005 Aug;103(2 Suppl):170-1. [16370285]
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