eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Cornelia De Lange Syndrome: Treatment & Medication

Author: Mustafa Tekin, MD, Associate Professor, Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Turkey
Coauthor(s): Joann Bodurtha, MD, MPH, Professor, Department of Human Genetics, Virginia Commonwealth University
Contributor Information and Disclosures

Updated: Nov 13, 2009

Treatment

Medical Care

  • Early intervention in patients with Cornelia de Lange syndrome (CdLS) is necessary for feeding problems, hearing and visual impairment, congenital heart disease, and urinary system abnormalities.
  • Early intervention for psychomotor delay is also indicated.
    • Computer programs that emphasize visual memory are more beneficial than standard methods of verbal instruction.
    • Perceptual organizational tasks should be emphasized.
    • Tactile stimulation during indirection helps the children remember and perform maximally.
    • Fine motor activities, when physical impairments do not limit them, should be stressed in education, especially activities related to activities of daily living.

Surgical Care

Surgery may be necessary for the following conditions:

  • Cleft palate
  • Nasal polyps
  • Gastroesophageal reflux disease
  • Pyloric stenosis
  • Intestinal malrotation/volvulus
  • Undescended testis
  • Lacrimal duct stenosis
  • Hip dislocations

Consultations

Consultation with the following specialists may be indicated:

  • Geneticist
  • Cardiologist
  • Gastroenterologist and nutritionist
  • Nephrologist (if recurrent urinary tract infections, impaired renal functions or congenital abnormalities are present)
  • Ophthalmologist
  • Hearing specialist
  • Neurologist

Medication

Drug therapy currently is not a component of the standard of care for this syndrome, except for clinically indicated situations such as seizures, gastroesophageal reflux, and behavioral symptoms. See Treatment.

More on Cornelia De Lange Syndrome

Overview: Cornelia De Lange Syndrome
Differential Diagnoses & Workup: Cornelia De Lange Syndrome
Treatment & Medication: Cornelia De Lange Syndrome
Follow-up: Cornelia De Lange Syndrome
Multimedia: Cornelia De Lange Syndrome
References
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References

  1. de Lange C. Sur un type nouveau de degeneration (typus amstelodamensis). Arch Med Enfants. 1933;36:713-9.

  2. Brachmann W. Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormalitaten. Jahr Kinderheilkunde. 1916;84:225-35.

  3. Krantz ID, McCallum J, DeScipio C, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genet. 2004;36:631-635. [Medline].

  4. Gillis LA, McCallum J, Kaur M, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004;75:610-23. [Medline]. [Full Text].

  5. Deardorff MA, Kaur M, Yaeger D, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. Mar 2007;80(3):485-94. [Medline].

  6. Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet. Apr 2007;15(4):505-8. [Medline].

  7. Krantz ID, Tonkin E, Smith M, et al. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am J Med Genet. Jun 15 2001;101(2):120-9. [Medline].

  8. Marchisio P, Selicorni A, Pignataro L, et al. Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome. Am J Med Genet A. Feb 15 2008;146A(4):426-32. [Medline].

  9. [Guideline] Kline AD, Krantz ID, Sommer A, et al. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287-1296. Am J Med Genet A. Sep 24 2008;146A(20):2713. [Medline].

  10. Aitken DA, Ireland M, Berry E, et al. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn. Aug 1999;19(8):706-10. [Medline].

  11. Allanson JE, Hennekam RC, Ireland M. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J Med Genet. Aug 1997;34(8):645-50. [Medline].

  12. Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Arch Dis Child. Oct 1999;81(4):333-6. [Medline]. [Full Text].

  13. Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat. Feb 2007;28(2):205-6. [Medline].

  14. Braddock SR, Lachman RS, Stoppenhagen CC, et al. Radiological features in Brachmann-de Lange syndrome. Am J Med Genet. Nov 15 1993;47(7):1006-13. [Medline].

  15. Bull MJ, Fitzgerald JF, Heifetz SA, Brei TJ. Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome. Am J Med Genet. Nov 15 1993;47(7):1029-34. [Medline].

  16. Deardorff MA, Yaeger DM, Krantz ID. Cornelia de Lange syndrome. GeneReviews. Available at http://www.genetests.org. Accessed 2005.

  17. Fitzpatrick DR, Kline AD. Cornelia de Lange syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York, NY: John Wiley and Sons; 2005.

  18. Fryns JP. Partial trisomy 4p and Brachmann-de Lange syndrome. Am J Med Genet. Dec 11 2000;95(4):406. [Medline].

  19. Goodban MT. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. Am J Med Genet. Nov 15 1993;47(7):1059-63. [Medline].

  20. Hyman P, Oliver C. Causal explanations, concern and optimism regarding self-injurious behaviour displayed by individuals with Cornelia de Lange syndrome: the parents' perspective. J Intellect Disabil Res. Aug 2001;45:326-34. [Medline].

  21. Hyman P, Oliver C, Hall S. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am J Ment Retard. 2002;107:146-54. [Medline].

  22. Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet. Nov 15 1993;47(7):959-64. [Medline].

  23. Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet. Nov 15 1993;47(7):940-6. [Medline].

  24. Kline AD, Barr M, Jackson LG. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet. Nov 15 1993;47(7):1042-9. [Medline].

  25. Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. Aug 15 2007;145C(3):248-60. [Medline].

  26. Kline AD, Stanley C, Belevich J, et al. Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet. Nov 15 1993;47(7):1053-8. [Medline].

  27. Kozma C. Autosomal dominant inheritance of Brachmann-de Lange syndrome. Am J Med Genet. Dec 30 1996;66(4):445-8. [Medline].

  28. Manouvrier S, Espinasse M, Vaast P, et al. Brachmann-de Lange syndrome: pre- and postnatal findings. Am J Med Genet. Mar 29 1996;62(3):268-73. [Medline].

  29. Masumoto K, Izaki T, Arima T. Cornelia de Lange syndrome associated with cecal volvulus: report of a case. Acta Paediatr. Jun 2001;90(6):701-3. [Medline].

  30. Mau UA, Backsch C, Schaudt H, et al. Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p?. Am J Med Genet. Mar 20 2000;91(3):180-4. [Medline].

  31. Moss J, Oliver C, Hall S, et al. The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome. J Intellect Disabil Res. 2005;49:269-77. [Medline].

  32. Musio A, Selicorni A, Focarelli ML, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet. May 2006;38(5):528-30. [Medline].

  33. Russell KL, Ming JE, Patel K, et al. Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. Am J Med Genet. Dec 15 2001;104(4):267-76. [Medline].

  34. Saal HM, Samango-Sprouse CA, Rodnan LA, et al. Brachmann-de Lange syndrome with normal IQ. Am J Med Genet. Nov 15 1993;47(7):995-8. [Medline].

  35. Sakai Y, Watanabe T, Kaga K. Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol. 2002;66:63-9. [Medline].

  36. Sarimski K. Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome. J Commun Disord. 2002;35:483-500. [Medline].

  37. Sekimoto H, Osada H, Kimura H, et al. Prenatal findings in Brachmann-de Lange syndrome. Arch Gynecol Obstet. Apr 2000;263(4):182-4. [Medline].

  38. Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, et al. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet. Aug 2007;72(2):98-108. [Medline].

  39. Selicorni A, Sforzini C, Milani D, et al. Anomalies of the kidney and urinary tract are common in de Lange syndrome. Am J Med Genet A. 2005;132:395-7. [Medline].

  40. Stefanatos GA, Musikoff H. Specific neurocognitive deficits in Cornelia de Lange syndrome. J Dev Behav Pediatr. Feb 1994;15(1):39-43. [Medline].

  41. Tonkin ET, Wang TJ, Lisgo S, et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet. 2004;36:636-41. [Medline].

  42. Urban M, Hartung J. Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. Am J Med Genet. Jul 22 2001;102(1):73-5. [Medline].

  43. Van Allen MI, Filippi G, Siegel-Bartelt J. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet. Nov 15 1993;47(7):947-58. [Medline].

  44. Wygnanski-Jaffe T, Shin J, Perruzza E, et al. Ophthalmologic findings in the cornelia de lange syndrome. J AAPOS. 2005;9:407-15. [Medline].

  45. Yamaguchi K, Ishitobi F. Brain dysgenesis in Cornelia de Lange syndrome. Clin Neuropathol. Mar-Apr 1999;18(2):99-105. [Medline].

  46. Yamanobe S, Ohtani I. Temporal bone pathology in Cornelia de Lange syndrome. Otol Neurotol. Jan 2001;22(1):57-60. [Medline].

  47. Wilmink FA, Papatsonis DN, Grijseels EW, Wessels MW. Cornelia de lange syndrome: a recognizable fetal phenotype. Fetal Diagn Ther. 2009;26(1):50-3. [Medline].

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Further Reading

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Keywords

Cornelia de Lange syndrome, CdLS, Brachmann-de Lange syndrome, de Lange syndrome, Amsterdam syndrome, typus degenerativus amstelodamensis, growth deficiency, feeding difficulties, psychomotor delay, behavioral problems

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Contributor Information and Disclosures

Author

Mustafa Tekin, MD, Associate Professor, Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Turkey
Mustafa Tekin, MD is a member of the following medical societies: American Society of Human Genetics
Disclosure: Nothing to disclose.

Coauthor(s)

Joann Bodurtha, MD, MPH, Professor, Department of Human Genetics, Virginia Commonwealth University
Disclosure: Nothing to disclose.

Medical Editor

Michael Fasullo, PhD, Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College
Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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