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Cornelia de Lange syndrome 6(CDLS6)

MedGen UID:
1050410
•Concept ID:
CN375871
•
Disease or Syndrome
Synonym: CDLS6
 
Gene (location): BRD4 (19p13.12)
 
Monarch Initiative: MONDO:0957921
OMIM®: 620568

Definition

Cornelia de Lange syndrome (CDLS) is a genetically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (608667) (summary by Musio et al., 2006 and Hoppman-Chaney et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see CDLS1 (122470). [from OMIM]

Professional guidelines

PubMed

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
Barili V, Ambrosini E, Uliana V, Bellini M, Vitetta G, Martorana D, Cannizzaro IR, Taiani A, De Sensi E, Caggiati P, Hilton S, Banka S, Percesepe A
Genes (Basel) 2023 Jun 10;14(6) doi: 10.3390/genes14061241. PMID: 37372421Free PMC Article
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Moss J, Penhallow J, Ansari M, Barton S, Bourn D, FitzPatrick DR, Goodship J, Hammond P, Roberts C, Welham A, Oliver C
Am J Med Genet A 2017 Jun;173(6):1566-1574. Epub 2017 Apr 19 doi: 10.1002/ajmg.a.38228. PMID: 28425213

Recent clinical studies

Etiology

Lenvatinib plus pembrolizumab versus lenvatinib plus placebo for advanced hepatocellular carcinoma (LEAP-002): a randomised, double-blind, phase 3 trial.
Llovet JM, Kudo M, Merle P, Meyer T, Qin S, Ikeda M, Xu R, Edeline J, Ryoo BY, Ren Z, Masi G, Kwiatkowski M, Lim HY, Kim JH, Breder V, Kumada H, Cheng AL, Galle PR, Kaneko S, Wang A, Mody K, Dutcus C, Dubrovsky L, Siegel AB, Finn RS; LEAP-002 Investigators
Lancet Oncol 2023 Dec;24(12):1399-1410. doi: 10.1016/S1470-2045(23)00469-2. PMID: 38039993
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D
Neurology 2022 Mar 15;98(11):e1163-e1174. Epub 2022 Jan 24 doi: 10.1212/WNL.0000000000200028. PMID: 35074891Free PMC Article
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.
Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology, Bluth T, Serpa Neto A, Schultz MJ, Pelosi P, Gama de Abreu M; PROBESE Collaborative Group, Bluth T, Bobek I, Canet JC, Cinnella G, de Baerdemaeker L, Gama de Abreu M, Gregoretti C, Hedenstierna G, Hemmes SNT, Hiesmayr M, Hollmann MW, Jaber S, Laffey J, Licker MJ, Markstaller K, Matot I, Mills GH, Mulier JP, Pelosi P, Putensen C, Rossaint R, Schmitt J, Schultz MJ, Senturk M, Serpa Neto A, Severgnini P, Sprung J, Vidal Melo MF, Wrigge H
JAMA 2019 Jun 18;321(23):2292-2305. doi: 10.1001/jama.2019.7505. PMID: 31157366Free PMC Article
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article

Diagnosis

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D
Neurology 2022 Mar 15;98(11):e1163-e1174. Epub 2022 Jan 24 doi: 10.1212/WNL.0000000000200028. PMID: 35074891Free PMC Article
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Cornelia de Lange syndrome and congenital diaphragmatic hernia.
Gupta VS, Khan AM, Ebanks AH, Lally PA, Lally KP, Harting MT; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2021 Apr;56(4):697-699. Epub 2020 Jun 11 doi: 10.1016/j.jpedsurg.2020.06.003. PMID: 32762940
Congenital Long QT syndrome and torsade de pointes.
El-Sherif N, Turitto G, Boutjdir M
Ann Noninvasive Electrocardiol 2017 Nov;22(6) Epub 2017 Jul 2 doi: 10.1111/anec.12481. PMID: 28670758Free PMC Article
Cornelia de Lange syndrome.
Noor N, Kazmi Z, Mehnaz A
J Coll Physicians Surg Pak 2012 Jun;22(6):412-3. PMID: 22630109

Therapy

Lenvatinib plus pembrolizumab versus lenvatinib plus placebo for advanced hepatocellular carcinoma (LEAP-002): a randomised, double-blind, phase 3 trial.
Llovet JM, Kudo M, Merle P, Meyer T, Qin S, Ikeda M, Xu R, Edeline J, Ryoo BY, Ren Z, Masi G, Kwiatkowski M, Lim HY, Kim JH, Breder V, Kumada H, Cheng AL, Galle PR, Kaneko S, Wang A, Mody K, Dutcus C, Dubrovsky L, Siegel AB, Finn RS; LEAP-002 Investigators
Lancet Oncol 2023 Dec;24(12):1399-1410. doi: 10.1016/S1470-2045(23)00469-2. PMID: 38039993
Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.
Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology, Bluth T, Serpa Neto A, Schultz MJ, Pelosi P, Gama de Abreu M; PROBESE Collaborative Group, Bluth T, Bobek I, Canet JC, Cinnella G, de Baerdemaeker L, Gama de Abreu M, Gregoretti C, Hedenstierna G, Hemmes SNT, Hiesmayr M, Hollmann MW, Jaber S, Laffey J, Licker MJ, Markstaller K, Matot I, Mills GH, Mulier JP, Pelosi P, Putensen C, Rossaint R, Schmitt J, Schultz MJ, Senturk M, Serpa Neto A, Severgnini P, Sprung J, Vidal Melo MF, Wrigge H
JAMA 2019 Jun 18;321(23):2292-2305. doi: 10.1001/jama.2019.7505. PMID: 31157366Free PMC Article
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Congenital Long QT syndrome and torsade de pointes.
El-Sherif N, Turitto G, Boutjdir M
Ann Noninvasive Electrocardiol 2017 Nov;22(6) Epub 2017 Jul 2 doi: 10.1111/anec.12481. PMID: 28670758Free PMC Article
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.
de Graaf M, Kant SG, Wit JM, Willem Redeker EJ, Eduard Santen GW, Henriëtta Verkerk AJM, Uitterlinden AG, Losekoot M, Oostdijk W
J Clin Res Pediatr Endocrinol 2017 Dec 15;9(4):366-370. Epub 2017 Jun 7 doi: 10.4274/jcrpe.4349. PMID: 28588001Free PMC Article

Prognosis

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D
Neurology 2022 Mar 15;98(11):e1163-e1174. Epub 2022 Jan 24 doi: 10.1212/WNL.0000000000200028. PMID: 35074891Free PMC Article
Cornelia de Lange syndrome and congenital diaphragmatic hernia.
Gupta VS, Khan AM, Ebanks AH, Lally PA, Lally KP, Harting MT; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2021 Apr;56(4):697-699. Epub 2020 Jun 11 doi: 10.1016/j.jpedsurg.2020.06.003. PMID: 32762940
Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.
Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology, Bluth T, Serpa Neto A, Schultz MJ, Pelosi P, Gama de Abreu M; PROBESE Collaborative Group, Bluth T, Bobek I, Canet JC, Cinnella G, de Baerdemaeker L, Gama de Abreu M, Gregoretti C, Hedenstierna G, Hemmes SNT, Hiesmayr M, Hollmann MW, Jaber S, Laffey J, Licker MJ, Markstaller K, Matot I, Mills GH, Mulier JP, Pelosi P, Putensen C, Rossaint R, Schmitt J, Schultz MJ, Senturk M, Serpa Neto A, Severgnini P, Sprung J, Vidal Melo MF, Wrigge H
JAMA 2019 Jun 18;321(23):2292-2305. doi: 10.1001/jama.2019.7505. PMID: 31157366Free PMC Article
Cornelia de Lange syndrome: Congenital heart disease in 149 patients.
Ayerza Casas A, Puisac Uriol B, Teresa Rodrigo ME, Hernández Marcos M, Ramos Fuentes FJ, Pie Juste J
Med Clin (Barc) 2017 Oct 11;149(7):300-302. Epub 2017 Jun 16 doi: 10.1016/j.medcli.2017.03.051. PMID: 28629661
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Moss J, Penhallow J, Ansari M, Barton S, Bourn D, FitzPatrick DR, Goodship J, Hammond P, Roberts C, Welham A, Oliver C
Am J Med Genet A 2017 Jun;173(6):1566-1574. Epub 2017 Apr 19 doi: 10.1002/ajmg.a.38228. PMID: 28425213

Clinical prediction guides

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D
Neurology 2022 Mar 15;98(11):e1163-e1174. Epub 2022 Jan 24 doi: 10.1212/WNL.0000000000200028. PMID: 35074891Free PMC Article
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Cornelia de Lange syndrome and congenital diaphragmatic hernia.
Gupta VS, Khan AM, Ebanks AH, Lally PA, Lally KP, Harting MT; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2021 Apr;56(4):697-699. Epub 2020 Jun 11 doi: 10.1016/j.jpedsurg.2020.06.003. PMID: 32762940
Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.
Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology, Bluth T, Serpa Neto A, Schultz MJ, Pelosi P, Gama de Abreu M; PROBESE Collaborative Group, Bluth T, Bobek I, Canet JC, Cinnella G, de Baerdemaeker L, Gama de Abreu M, Gregoretti C, Hedenstierna G, Hemmes SNT, Hiesmayr M, Hollmann MW, Jaber S, Laffey J, Licker MJ, Markstaller K, Matot I, Mills GH, Mulier JP, Pelosi P, Putensen C, Rossaint R, Schmitt J, Schultz MJ, Senturk M, Serpa Neto A, Severgnini P, Sprung J, Vidal Melo MF, Wrigge H
JAMA 2019 Jun 18;321(23):2292-2305. doi: 10.1001/jama.2019.7505. PMID: 31157366Free PMC Article
Attenuated behaviour in Cornelia de Lange and fragile X syndromes.
Bell L, Oliver C, Wittkowski A, Moss J, Hare D
J Intellect Disabil Res 2018 Jun;62(6):486-495. Epub 2018 Mar 13 doi: 10.1111/jir.12481. PMID: 29536582

Recent systematic reviews

Prospective postmortem evaluation of 735 consecutive SARS-CoV-2-associated death cases.
Fitzek A, Schädler J, Dietz E, Ron A, Gerling M, Kammal AL, Lohner L, Falck C, Möbius D, Goebels H, Gerberding AL, Schröder AS, Sperhake JP, Klein A, Fröb D, Mushumba H, Wilmes S, Anders S, Kniep I, Heinrich F, Langenwalder F, Meißner K, Lange P, Zapf A, Püschel K, Heinemann A, Glatzel M, Matschke J, Aepfelbacher M, Lütgehetmann M, Steurer S, Thorns C, Edler C, Ondruschka B
Sci Rep 2021 Sep 29;11(1):19342. doi: 10.1038/s41598-021-98499-3. PMID: 34588486Free PMC Article
Cornelia de lange manifestations in otolaryngology: A systematic review and meta-analysis.
Bergeron M, Chang K, Ishman SL
Laryngoscope 2020 Apr;130(4):E122-E133. Epub 2019 Jul 13 doi: 10.1002/lary.28169. PMID: 31301187
Systematic review of surgical treatments for benign prostatic hyperplasia and presentation of an approach to investigate therapeutic equivalence (non-inferiority).
Biester K, Skipka G, Jahn R, Buchberger B, Rohde V, Lange S
BJU Int 2012 Mar;109(5):722-30. Epub 2011 Aug 22 doi: 10.1111/j.1464-410X.2011.10512.x. PMID: 21883855

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