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Short Rib-Polydactyly Syndromes
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Short rib-polydactyly syndrome (SRPS)
          • Synonyms

            • Short rib-polydactyly syndrome (SRPS)
            • Short rib-thoracic dysplasia ± polydactyly (SRTD)
          • Definitions

            • Group of rare osteochondrodysplasias characterized by short tubular bones, short horizontal ribs with severely constricted thorax, ± polydactyly, ± visceral anomalies
              • Significant phenotypic overlap and genetic heterogeneity between various subtypes (SRTD1-14; SRPS1-4), which vary based on visceral involvement and appearance of metaphyses
              • All belong to group of autosomal recessive skeletal ciliopathies

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Radiographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Demir N et al: A rare cause of persistent pulmonary hypertension resistant to therapy in the newborn: short-rib polydactyly syndrome. Case Rep Pulmonol. 2015:274639, 2015
                                2. Li Y et al: Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. Am J Med Genet A. 167A(9):2188-96, 2015
                                3. Mei L et al: Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III. Clin Chim Acta. 447:47-51, 2015
                                4. Smith C et al: A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. Am J Med Genet A. ePub, 2015
                                5. Schmidts M: Clinical genetics and pathobiology of ciliary chondrodysplasias. J Pediatr Genet. 3(2):46-94, 2014
                                6. Baujat G et al: Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet. 50(2):91-8, 2013
                                7. Eleftheriades M et al: Recurrent short rib polydactyly syndrome. J Obstet Gynaecol. 33(1):14-6, 2013
                                8. Huber C et al: WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 93(5):926-31, 2013
                                9. Lin AE et al: Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 161A(11):2762-76, 2013
                                10. Ashe A et al: Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Hum Mol Genet. 21(8):1808-23, 2012
                                11. Bacino CA et al: WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 158A(11):2917-24, 2012
                                12. Başgül Yiğiter A et al: A short rib polydactyly syndrome overlapping both lethal and nonlethal types. Genet Couns. 23(2):231-7, 2012
                                13. Chen CP et al: First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. Taiwan J Obstet Gynecol. 51(4):643-8, 2012
                                14. Bredrup C et al: Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 89(5):634-43, 2011
                                15. Dagoneau N et al: DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 84(5):706-11, 2009
                                16. Merrill AE et al: Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 84(4):542-9, 2009
                                17. Taori KB et al: Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. J Clin Ultrasound. 37(7):406-9, 2009
                                18. Daskalakis G et al: Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family. Fetal Diagn Ther. 21(5):401-3, 2006
                                19. Taylor AM et al: Postmortem magnetic resonance imaging as an adjunct to the diagnosis of skeletal dysplasias: short-rib polydactyly syndrome. Ultrasound Obstet Gynecol. 27(5):585-6, 2006
                                20. Kumru P et al: Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). Fetal Diagn Ther. 20(5):410-4, 2005
                                21. Corsi A et al: Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype. Pediatr Dev Pathol. 5(1):91-6, 2002
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Abbreviations

                                          • Short rib-polydactyly syndrome (SRPS)
                                        • Synonyms

                                          • Short rib-polydactyly syndrome (SRPS)
                                          • Short rib-thoracic dysplasia ± polydactyly (SRTD)
                                        • Definitions

                                          • Group of rare osteochondrodysplasias characterized by short tubular bones, short horizontal ribs with severely constricted thorax, ± polydactyly, ± visceral anomalies
                                            • Significant phenotypic overlap and genetic heterogeneity between various subtypes (SRTD1-14; SRPS1-4), which vary based on visceral involvement and appearance of metaphyses
                                            • All belong to group of autosomal recessive skeletal ciliopathies

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Radiographic Findings

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    • Microscopic Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Demir N et al: A rare cause of persistent pulmonary hypertension resistant to therapy in the newborn: short-rib polydactyly syndrome. Case Rep Pulmonol. 2015:274639, 2015
                                                              2. Li Y et al: Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. Am J Med Genet A. 167A(9):2188-96, 2015
                                                              3. Mei L et al: Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III. Clin Chim Acta. 447:47-51, 2015
                                                              4. Smith C et al: A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. Am J Med Genet A. ePub, 2015
                                                              5. Schmidts M: Clinical genetics and pathobiology of ciliary chondrodysplasias. J Pediatr Genet. 3(2):46-94, 2014
                                                              6. Baujat G et al: Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet. 50(2):91-8, 2013
                                                              7. Eleftheriades M et al: Recurrent short rib polydactyly syndrome. J Obstet Gynaecol. 33(1):14-6, 2013
                                                              8. Huber C et al: WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 93(5):926-31, 2013
                                                              9. Lin AE et al: Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 161A(11):2762-76, 2013
                                                              10. Ashe A et al: Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Hum Mol Genet. 21(8):1808-23, 2012
                                                              11. Bacino CA et al: WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 158A(11):2917-24, 2012
                                                              12. Başgül Yiğiter A et al: A short rib polydactyly syndrome overlapping both lethal and nonlethal types. Genet Couns. 23(2):231-7, 2012
                                                              13. Chen CP et al: First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. Taiwan J Obstet Gynecol. 51(4):643-8, 2012
                                                              14. Bredrup C et al: Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 89(5):634-43, 2011
                                                              15. Dagoneau N et al: DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 84(5):706-11, 2009
                                                              16. Merrill AE et al: Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 84(4):542-9, 2009
                                                              17. Taori KB et al: Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. J Clin Ultrasound. 37(7):406-9, 2009
                                                              18. Daskalakis G et al: Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family. Fetal Diagn Ther. 21(5):401-3, 2006
                                                              19. Taylor AM et al: Postmortem magnetic resonance imaging as an adjunct to the diagnosis of skeletal dysplasias: short-rib polydactyly syndrome. Ultrasound Obstet Gynecol. 27(5):585-6, 2006
                                                              20. Kumru P et al: Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). Fetal Diagn Ther. 20(5):410-4, 2005
                                                              21. Corsi A et al: Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype. Pediatr Dev Pathol. 5(1):91-6, 2002