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Syndromes and Multisystem Disorders
Fryns Syndrome
Fryns Syndrome
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Definitions

              • Autosomal recessive multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) with pulmonary hypoplasia, characteristic facial appearance, distal digital hypoplasia
                • Usually lethal in perinatal period

            IMAGING

            • Ultrasonographic Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              • Image Interpretation Pearls

                                Selected References

                                1. Alessandri JL et al: Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. Eur J Hum Genet. 26(3):340-9, 2018
                                2. McInerney-Leo AM et al: Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum Mutat. 37(7):695-702, 2016
                                3. Peron A et al: Prenatal and postnatal findings in five cases of Fryns syndrome. Prenat Diagn. 34(12):1227-30, 2014
                                4. Slavotinek AM: The genetics of common disorders - congenital diaphragmatic hernia. Eur J Med Genet. 57(8):418-23, 2014
                                5. Kantarci S et al: Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 152A(10):2493-504, 2010
                                6. Dentici ML et al: A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. Eur J Med Genet. 52(6):421-5, 2009
                                7. Van Esch H et al: Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur J Med Genet. 52(2-3):153-6, 2009
                                8. Yucesoy G et al: Fryns syndrome: case report and review of the literature. J Clin Ultrasound. 36(5):315-7, 2008
                                9. Alessandri JL et al: [Fryns syndrome. Report on 3 new cases.] Arch Pediatr. 14(7):903-7, 2007
                                10. Chen CP et al: Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. Prenat Diagn. 27(10):967-9, 2007
                                11. Kantarci S et al: Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics. Am J Med Genet C Semin Med Genet. 145C(2):217-26, 2007
                                12. Benacerraf BR et al: Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome. Ultrasound Obstet Gynecol. 27(5):566-70, 2006
                                13. Alessandri L et al: Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genet Couns. 16(4):363-70, 2005
                                14. Slavotinek AM: Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 124(4):427-33, 2004
                                15. Slavotinek A et al: Fryns Syndrome 1993
                                16. Cunniff C et al: Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics. 85(4):499-504, 1990
                                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

                                          • Definitions

                                            • Autosomal recessive multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) with pulmonary hypoplasia, characteristic facial appearance, distal digital hypoplasia
                                              • Usually lethal in perinatal period

                                          IMAGING

                                          • Ultrasonographic Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          DIAGNOSTIC CHECKLIST

                                                          • Consider

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Alessandri JL et al: Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. Eur J Hum Genet. 26(3):340-9, 2018
                                                              2. McInerney-Leo AM et al: Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum Mutat. 37(7):695-702, 2016
                                                              3. Peron A et al: Prenatal and postnatal findings in five cases of Fryns syndrome. Prenat Diagn. 34(12):1227-30, 2014
                                                              4. Slavotinek AM: The genetics of common disorders - congenital diaphragmatic hernia. Eur J Med Genet. 57(8):418-23, 2014
                                                              5. Kantarci S et al: Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 152A(10):2493-504, 2010
                                                              6. Dentici ML et al: A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. Eur J Med Genet. 52(6):421-5, 2009
                                                              7. Van Esch H et al: Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur J Med Genet. 52(2-3):153-6, 2009
                                                              8. Yucesoy G et al: Fryns syndrome: case report and review of the literature. J Clin Ultrasound. 36(5):315-7, 2008
                                                              9. Alessandri JL et al: [Fryns syndrome. Report on 3 new cases.] Arch Pediatr. 14(7):903-7, 2007
                                                              10. Chen CP et al: Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. Prenat Diagn. 27(10):967-9, 2007
                                                              11. Kantarci S et al: Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics. Am J Med Genet C Semin Med Genet. 145C(2):217-26, 2007
                                                              12. Benacerraf BR et al: Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome. Ultrasound Obstet Gynecol. 27(5):566-70, 2006
                                                              13. Alessandri L et al: Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genet Couns. 16(4):363-70, 2005
                                                              14. Slavotinek AM: Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 124(4):427-33, 2004
                                                              15. Slavotinek A et al: Fryns Syndrome 1993
                                                              16. Cunniff C et al: Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics. 85(4):499-504, 1990