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Meckel-Gruber Syndrome
Brian L. Shaffer, MD; Paula J. Woodward, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Meckel-Gruber syndrome (MKS)
            • Synonyms

              • Meckel syndrome
            • Definitions

              • Described in 1822 by Johann Meckel in pair of siblings
              • Georg Gruber described 6 similar fetuses with "dysencephalia splanchnocystica" in 1934
              • Recessive syndrome with dysfunctioning cilia during embryogenesis, resulting in
                • Renal cystic dysplasia in 98-100%
                • Encephalocele or other CNS abnormality in 60-90%
                • Postaxial polydactyly in 70-87%
                • Hepatic ductal plate malformation → fibrosis (> 95%)

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. McConnachie DJ et al: Ciliopathies and the kidney: a review. Am J Kidney Dis. 77(3):410-9, 2021
                                    2. Radhakrishnan P et al: Meckel syndrome: clinical and mutation profile in six fetuses. Clin Genet. 96(6):560-5, 2019
                                    3. Ridnõi K et al: A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Mol Genet Genomic Med. 7(5):e614, 2019
                                    4. Hartill V et al: Meckel-Gruber syndrome: an update on diagnosis, clinical management, and research advances. Front Pediatr. 5:244, 2017
                                    5. Khurana S et al: Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation. J Ultrasound. 20(2):167-70, 2017
                                    6. Barisic I et al: Meckel-Gruber syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet. 23(6):746-52, 2015
                                    7. Barker AR et al: Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis. 10(1):96-107, 2014
                                    8. Jones D et al: First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound Obstet Gynecol. 44(6):719-21, 2014
                                    9. Eckmann-Scholz C et al: Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. Arch Gynecol Obstet. 286(4):917-21, 2012
                                    10. Venkatachala S et al: Meckel syndrome with Caroli disease and choledochal cysts. Fetal Pediatr Pathol. 30(5):350-4, 2011
                                    11. Gupta P et al: MRI in a fetus with Meckel-Gruber syndrome. Pediatr Radiol. 38(1):122, 2008
                                    12. Consugar MB et al: Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 121(5):591-9, 2007
                                    13. Dawe HR et al: The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 16(2):173-86, 2007
                                    14. Alexiev BA et al: Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 130(8):1236-8, 2006
                                    15. Chaumoitre K et al: Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study. Ultrasound Obstet Gynecol. 28(7):911-7, 2006
                                    16. Guven MA et al: Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. Genet Couns. 17(1):65-8, 2006
                                    17. Ickowicz V et al: Meckel-Grüber syndrome: sonography and pathology. Ultrasound Obstet Gynecol. 27(3):296-300, 2006
                                    18. Liu SS et al: First-trimester ultrasound diagnosis of Meckel-Grüber syndrome. Acta Obstet Gynecol Scand. 85(6):757-9, 2006
                                    19. Walsh M et al: Meckel-Gruber syndrome in association with an occipital meningocele. Pediatr Neurosurg. 42(5):333-4, 2006
                                    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

                                              • Abbreviations

                                                • Meckel-Gruber syndrome (MKS)
                                              • Synonyms

                                                • Meckel syndrome
                                              • Definitions

                                                • Described in 1822 by Johann Meckel in pair of siblings
                                                • Georg Gruber described 6 similar fetuses with "dysencephalia splanchnocystica" in 1934
                                                • Recessive syndrome with dysfunctioning cilia during embryogenesis, resulting in
                                                  • Renal cystic dysplasia in 98-100%
                                                  • Encephalocele or other CNS abnormality in 60-90%
                                                  • Postaxial polydactyly in 70-87%
                                                  • Hepatic ductal plate malformation → fibrosis (> 95%)

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Microscopic Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. McConnachie DJ et al: Ciliopathies and the kidney: a review. Am J Kidney Dis. 77(3):410-9, 2021
                                                                      2. Radhakrishnan P et al: Meckel syndrome: clinical and mutation profile in six fetuses. Clin Genet. 96(6):560-5, 2019
                                                                      3. Ridnõi K et al: A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Mol Genet Genomic Med. 7(5):e614, 2019
                                                                      4. Hartill V et al: Meckel-Gruber syndrome: an update on diagnosis, clinical management, and research advances. Front Pediatr. 5:244, 2017
                                                                      5. Khurana S et al: Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation. J Ultrasound. 20(2):167-70, 2017
                                                                      6. Barisic I et al: Meckel-Gruber syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet. 23(6):746-52, 2015
                                                                      7. Barker AR et al: Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis. 10(1):96-107, 2014
                                                                      8. Jones D et al: First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound Obstet Gynecol. 44(6):719-21, 2014
                                                                      9. Eckmann-Scholz C et al: Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. Arch Gynecol Obstet. 286(4):917-21, 2012
                                                                      10. Venkatachala S et al: Meckel syndrome with Caroli disease and choledochal cysts. Fetal Pediatr Pathol. 30(5):350-4, 2011
                                                                      11. Gupta P et al: MRI in a fetus with Meckel-Gruber syndrome. Pediatr Radiol. 38(1):122, 2008
                                                                      12. Consugar MB et al: Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 121(5):591-9, 2007
                                                                      13. Dawe HR et al: The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 16(2):173-86, 2007
                                                                      14. Alexiev BA et al: Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 130(8):1236-8, 2006
                                                                      15. Chaumoitre K et al: Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study. Ultrasound Obstet Gynecol. 28(7):911-7, 2006
                                                                      16. Guven MA et al: Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. Genet Couns. 17(1):65-8, 2006
                                                                      17. Ickowicz V et al: Meckel-Grüber syndrome: sonography and pathology. Ultrasound Obstet Gynecol. 27(3):296-300, 2006
                                                                      18. Liu SS et al: First-trimester ultrasound diagnosis of Meckel-Grüber syndrome. Acta Obstet Gynecol Scand. 85(6):757-9, 2006
                                                                      19. Walsh M et al: Meckel-Gruber syndrome in association with an occipital meningocele. Pediatr Neurosurg. 42(5):333-4, 2006