Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Fahrenhorst-Jones T, Skalina T, et al. Cornelia de Lange syndrome. Reference article, Radiopaedia.org (Accessed on 30 Jun 2024) https://doi.org/10.53347/rID-7578
Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogeneous developmental disorder of unknown aetiology. Although the described clinical symptomatology is very broad, the majority of cases include growth impairment, learning disability and dysmorphic facies.
The estimated incidence is at ~1:10,000-30,000 births 15. There is no recognised racial or gender predilection 8.
The syndrome carries a wide spectrum of clinical features which include:
Genetics
Most cases are thought to be sporadic resulting in a new autosomal dominant mutation 8. Occasional autosomal dominant and autosomal recessive forms are known. Some have abnormalities in chromosome 3q26.3. Heterozygous mutations in the cohesin regulator, NIPBL, or the cohesin structural components SMC1A and SMC3, have been identified in approximately 65% of individuals with Cornelia de Lange syndrome 6. Other implicated genes are RAD21 and HDAC8 15.
Markers
Antenatal ultrasound
May demonstrate many of the above clinical features. An early - first trimester - ultrasound scan may show an increased nuchal translucency as a non-specific but early sign 4,13.
History and etymology
The condition was initially described by the German physician Winfried Brachmann (1888-1969) in 1916 5 but was described in its full clinical presentation by Cornelia de Lange (1871-1950), a Dutch paediatrician for whom it is named, in 1933 16.
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1. Revenkova E, Focarelli ML, Susani L et-al. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum. Mol. Genet. 2009;18 (3): 418-27. doi:10.1093/hmg/ddn369 - Free text at pubmed - Pubmed citation
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2. Kim J, Kim EY, Lee JS et-al. Temporal bone CT findings in Cornelia de Lange syndrome. AJNR Am J Neuroradiol. 2008;29 (3): 569-73. doi:10.3174/ajnr.A0888 - Pubmed citation
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3. Applegate KE, Anderson JM, Klatte EC. Intestinal malrotation in children: a problem-solving approach to the upper gastrointestinal series. Radiographics. 26 (5): 1485-500. doi:10.1148/rg.265055167 - Pubmed citation
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4. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
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5. Brachmann W, Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftogkeit, halsrippen, behaarung). Jarb. Kinder. Phys. Erzie. 84: 225-235, 1916.
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6. Liu J, Krantz ID. Cornelia de Lange syndrome, cohesin, and beyond. Clin. Genet. 2009;76 (4): 303-14. doi:10.1111/j.1399-0004.2009.01271.x - Free text at pubmed - Pubmed citation
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7. Liu J, Baynam G. Cornelia de Lange syndrome. Adv. Exp. Med. Biol. 2010;685 : 111-23. - Pubmed citation
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8. Kim J, Kim EY, Lee JS et-al. Temporal bone CT findings in Cornelia de Lange syndrome. AJNR Am J Neuroradiol. 2008;29 (3): 569-73. doi:10.3174/ajnr.A0888 - Pubmed citation
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9. Kurlander#, Gerald J.; DeMyer, William. Radiology. doi:10.1148/88.1.101
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10. Braddock SR, Lachman RS, Stoppenhagen CC et-al. Radiological features in Brachmann-de Lange syndrome. Am. J. Med. Genet. 1993;47 (7): 1006-13. doi:10.1002/ajmg.1320470714 - Pubmed citation
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11. Le vaillant C, Quere MP, David A et-al. Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography. Fetal. Diagn. Ther. 19 (2): 155-9. doi:10.1159/000075141 - Pubmed citation
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12. Bruner JP, Hsia YE. Prenatal findings in Brachmann-de Lange syndrome. Obstet Gynecol. 1990;76 (5 Pt 2): 966-8. - Pubmed citation
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13. Sekimoto H, Osada H, Kimura H et-al. Prenatal findings in Brachmann-de Lange syndrome. Arch. Gynecol. Obstet. 2000;263 (4): 182-4. Arch. Gynecol. Obstet. (link) - Pubmed citation
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14. Dinah M. et al. Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies. (2012) American Journal of Medical Genetics Part A. 158A (8): 1848. doi:10.1002/ajmg.a.35410 - Pubmed
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15. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. (2019) American journal of medical genetics. Part A. 179 (2): 150-158. doi:10.1002/ajmg.a.61033 - Pubmed
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16. de Lange C (1933). "Sur un type nouveau de degenerescence (typus Amstelodamensis)" [On a new type of degeneration (typus Amstelodamensis)]. Arch. Med. Enfants (in French). 36: 713–719. doi:
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