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Achondroplasia
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Most common heritable, nonlethal skeletal dysplasia
                • Characterized by disproportionately short limbs (rhizomelia), large head with frontal bossing, midface hypoplasia, and short digits
                • Homozygous achondroplasia is lethal
                  • Occurs when mutation inherited from each of 2 affected parents (25% risk with each pregnancy)

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
                                  2. Coi A et al: Epidemiology of achondroplasia: a population-based study in Europe. Am J Med Genet A. 179(9):1791-8, 2019
                                  3. Vivanti AJ et al: Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell-free fetal DNA analysis. Ultrasound Obstet Gynecol. 53(1):87-94, 2019
                                  4. Zhang J et al: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 25(3):439-47, 2019
                                  5. Ceroni JRM et al: Natural history of 39 patients with achondroplasia. ClinicsReferences (Sao Paulo). 73:e324, 2018
                                  6. Ren Y et al: Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: test performance analysis and feasibility exploration. Prenat Diagn. 38(11):821-8, 2018
                                  7. Melekoglu R et al: Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia. BMJ Case Rep. 2017, 2017
                                  8. Khalil A et al: Widening of the femoral proximal diaphysis--metaphysis angle in fetuses with achondroplasia. Ultrasound Obstet Gynecol. 44(1):69-75, 2014
                                  9. Bustamante-Aragonés A et al: Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Gene. 504(1):144-9, 2012
                                  10. Hatzaki A et al: FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases. Am J Med Genet A. 155A(10):2426-35, 2011
                                  11. Laederich MB et al: Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 22(4):516-23, 2010
                                  12. Martínez-Frías ML et al: Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 152A(1):245-55, 2010
                                  13. Boulet S et al: Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 29(7):697-702, 2009
                                  14. King JA et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 4(4):297-306, 2009
                                  15. Waller DK et al: The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 146A(18):2385-9, 2008
                                  16. Zankl A et al: Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. Am J Med Genet A. 146A(2):212-8, 2008
                                  17. Horton WA et al: Achondroplasia. Lancet. 370(9582):162-72, 2007
                                  18. Trotter TL et al: Health supervision for children with achondroplasia. Pediatrics. 2005 Sep;116(3):771-83. Erratum in: Pediatrics. 116(6):1615, 2005
                                  19. Brodie SG et al: Mouse models orthologous to FGFR3-related skeletal dysplasias. Pediatr Pathol Mol Med. 22(1):87-103, 2003
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Definitions

                                                • Most common heritable, nonlethal skeletal dysplasia
                                                • Characterized by disproportionately short limbs (rhizomelia), large head with frontal bossing, midface hypoplasia, and short digits
                                                • Homozygous achondroplasia is lethal
                                                  • Occurs when mutation inherited from each of 2 affected parents (25% risk with each pregnancy)

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
                                                                  2. Coi A et al: Epidemiology of achondroplasia: a population-based study in Europe. Am J Med Genet A. 179(9):1791-8, 2019
                                                                  3. Vivanti AJ et al: Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell-free fetal DNA analysis. Ultrasound Obstet Gynecol. 53(1):87-94, 2019
                                                                  4. Zhang J et al: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 25(3):439-47, 2019
                                                                  5. Ceroni JRM et al: Natural history of 39 patients with achondroplasia. ClinicsReferences (Sao Paulo). 73:e324, 2018
                                                                  6. Ren Y et al: Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: test performance analysis and feasibility exploration. Prenat Diagn. 38(11):821-8, 2018
                                                                  7. Melekoglu R et al: Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia. BMJ Case Rep. 2017, 2017
                                                                  8. Khalil A et al: Widening of the femoral proximal diaphysis--metaphysis angle in fetuses with achondroplasia. Ultrasound Obstet Gynecol. 44(1):69-75, 2014
                                                                  9. Bustamante-Aragonés A et al: Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Gene. 504(1):144-9, 2012
                                                                  10. Hatzaki A et al: FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases. Am J Med Genet A. 155A(10):2426-35, 2011
                                                                  11. Laederich MB et al: Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 22(4):516-23, 2010
                                                                  12. Martínez-Frías ML et al: Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 152A(1):245-55, 2010
                                                                  13. Boulet S et al: Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 29(7):697-702, 2009
                                                                  14. King JA et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 4(4):297-306, 2009
                                                                  15. Waller DK et al: The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 146A(18):2385-9, 2008
                                                                  16. Zankl A et al: Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. Am J Med Genet A. 146A(2):212-8, 2008
                                                                  17. Horton WA et al: Achondroplasia. Lancet. 370(9582):162-72, 2007
                                                                  18. Trotter TL et al: Health supervision for children with achondroplasia. Pediatrics. 2005 Sep;116(3):771-83. Erratum in: Pediatrics. 116(6):1615, 2005
                                                                  19. Brodie SG et al: Mouse models orthologous to FGFR3-related skeletal dysplasias. Pediatr Pathol Mol Med. 22(1):87-103, 2003