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Pfeiffer Syndrome
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Acrocephalosyndactyly type V; ACS5
              • Noack syndrome
            • Definitions

              • Craniosynostosis syndrome with characteristic hand and foot anomalies

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        CLINICAL ISSUES

                        • Presentation

                          • Natural History & Prognosis

                            Selected References

                            1. Mavridis IN et al: Nervous system involvement in Pfeiffer syndrome. Childs Nerv Syst. 37(2):367-74, 2020
                            2. Pfeifer CM: Kleeblattschädel in Pfeiffer syndrome type II. Radiol Case Rep. 15(5):474-8, 2020
                            3. Raposo-Amaral CE et al: Pfeiffer syndrome: a therapeutic algorithm based on a modified grading scale. Plast Reconstr Surg Glob Open. 8(4):e2788, 2020
                            4. Peña-Padilla C et al: Pfeiffer syndrome type 3 and prune belly anomaly in a female: case report and review. Fetal Pediatr Pathol. 38(5):412-7, 2019
                            5. Rai R et al: Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology. Childs Nerv Syst. 35(9):1451-5, 2019
                            6. Sawh-Martinez R et al: Syndromic craniosynostosis. Clin Plast Surg. 46(2):141-55, 2019
                            7. Wenger TL et al: A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. Genet Med. 21(2):471-6, 2019
                            8. Giancotti A et al: Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. J Matern Fetal Neonatal Med. 30(18):2225-31, 2017
                            9. Al-Adba B et al: Radiographic manifestations in Pfeiffer syndrome. Arthritis Rheumatol. 67(8):2282, 2015
                            10. Flöttmann R et al: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--the emerging role of combined NGS and phenotype based strategies. Eur J Med Genet. 58(8):376-80, 2015
                            11. Goldstein JA et al: Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis. J Craniofac Surg. 26(1):124-8, 2015
                            12. Agochukwu NB et al: Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 78(12):2037-47, 2014
                            13. Bessenyei B et al: Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. Am J Med Genet A. 164A(12):3176-9, 2014
                            14. Nieuwenhuyzen-De Boer GM et al: Pfeiffer syndrome: the importance of prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol. 181:339-40, 2014
                            15. Nout E et al: Three-dimensional airway changes after Le Fort III advancement in syndromic craniosynostosis patients. Plast Reconstr Surg. 126(2):564-71, 2010
                            16. Fearon JA et al: Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg. 123(5):1560-9, 2009
                            17. Flapper WJ et al: Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg. 20(4):1252-5, 2009
                            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

                                      TERMINOLOGY

                                      • Synonyms

                                        • Acrocephalosyndactyly type V; ACS5
                                        • Noack syndrome
                                      • Definitions

                                        • Craniosynostosis syndrome with characteristic hand and foot anomalies

                                      IMAGING

                                      • General Features

                                        • Ultrasonographic Findings

                                          • Imaging Recommendations

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                • Staging, Grading, & Classification

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Natural History & Prognosis

                                                      Selected References

                                                      1. Mavridis IN et al: Nervous system involvement in Pfeiffer syndrome. Childs Nerv Syst. 37(2):367-74, 2020
                                                      2. Pfeifer CM: Kleeblattschädel in Pfeiffer syndrome type II. Radiol Case Rep. 15(5):474-8, 2020
                                                      3. Raposo-Amaral CE et al: Pfeiffer syndrome: a therapeutic algorithm based on a modified grading scale. Plast Reconstr Surg Glob Open. 8(4):e2788, 2020
                                                      4. Peña-Padilla C et al: Pfeiffer syndrome type 3 and prune belly anomaly in a female: case report and review. Fetal Pediatr Pathol. 38(5):412-7, 2019
                                                      5. Rai R et al: Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology. Childs Nerv Syst. 35(9):1451-5, 2019
                                                      6. Sawh-Martinez R et al: Syndromic craniosynostosis. Clin Plast Surg. 46(2):141-55, 2019
                                                      7. Wenger TL et al: A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. Genet Med. 21(2):471-6, 2019
                                                      8. Giancotti A et al: Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. J Matern Fetal Neonatal Med. 30(18):2225-31, 2017
                                                      9. Al-Adba B et al: Radiographic manifestations in Pfeiffer syndrome. Arthritis Rheumatol. 67(8):2282, 2015
                                                      10. Flöttmann R et al: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--the emerging role of combined NGS and phenotype based strategies. Eur J Med Genet. 58(8):376-80, 2015
                                                      11. Goldstein JA et al: Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis. J Craniofac Surg. 26(1):124-8, 2015
                                                      12. Agochukwu NB et al: Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 78(12):2037-47, 2014
                                                      13. Bessenyei B et al: Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. Am J Med Genet A. 164A(12):3176-9, 2014
                                                      14. Nieuwenhuyzen-De Boer GM et al: Pfeiffer syndrome: the importance of prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol. 181:339-40, 2014
                                                      15. Nout E et al: Three-dimensional airway changes after Le Fort III advancement in syndromic craniosynostosis patients. Plast Reconstr Surg. 126(2):564-71, 2010
                                                      16. Fearon JA et al: Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg. 123(5):1560-9, 2009
                                                      17. Flapper WJ et al: Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg. 20(4):1252-5, 2009