eMedicine Specialties > Dermatology > Pediatric Diseases

de Lange Syndrome: Follow-up

Author: Krystyna H Chrzanowska, MD, PhD, Head of Genetic Counseling Unit, Associate Professor, Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland
Coauthor(s): Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Contributor Information and Disclosures

Updated: Oct 2, 2009

Follow-up

Further Inpatient Care

  • In Cornelia de Lange syndrome (CDLS), further inpatient care is needed as indicated by associated abnormalities or complications that may require surgical correction and/or intensive medical therapy.

Further Outpatient Care

  • Associated developmental abnormalities and disabilities determine further outpatient care.
  • A systematic auxology evaluation of growth rate using the specific growth chart is recommended. Specifically, this should include standard growth curves for weight, height, and head circumference from birth through adulthood based on serial measurements of patients with clinically confirmed diagnoses of Cornelia de Lange syndrome (CDLS). See the CdLS-USA Foundation Web site.

Deterrence/Prevention

  • Genetic counseling and prenatal diagnosis may be offered. 
    • Most cases are sporadic (>99%) and are caused by de novo mutations.
    • In families with parental transmission of the disease (<1%), an autosomal dominant or an X-linked dominant mode of inheritance is possible.
    • In the case of an autosomal dominant mutation in the NIPBL gene, the risk of transmitting the mutation to offspring is 50%; males and females are affected equally.
    • In the case of an X-linked dominant mutation in the SMC1A gene, the risk of transmitting the mutation to offspring is also 50%; however, the affected female will pass the mutation to half of her daughters and sons, and the affected male will pass the mutation to all of his daughters but not to sons.
    • When parents are not affected, the risk of recurrence has been estimated at 1.5% (germinal mosaicism).24,26
    • Prenatal diagnosis is possible in families at increased risk of recurrence for Cornelia de Lange syndrome (CDLS), if the mutation (in the NIPBL or SMC1A gene) is precisely identified in the proband before pregnancy. See Lab Studies and the Laboratory Directory at GeneTests.
    • Ultrasonographic screening for evidence of the manifestations of the syndrome (ie, intrauterine growth retardation, limb defects, diaphragmatic hernia, nuchal translucency) may be helpful.54,55,72,73,74
    • A second trimester maternal serum pregnancy-associated plasma protein-A (PAPP-A) measurement may have predictive value as an addition to ultrasonography.75
    • Detection of a mild form of Brachmann-de Lange syndrome (BDLS) using 3-dimensional ultrasonography combined with 3-dimensional computed tomography has been reported.76

Complications

  • Complications may arise from the associated anomalies of Cornelia de Lange syndrome (CDLS).

Prognosis

  • The prognosis for patients with the mild form of Cornelia de Lange syndrome (CDLS) is much better than that for patients with the classic form.
  • Life expectancy is generally normal; patient survival to adult age is recorded.
  • Most recorded deaths occur in infancy, and they mostly happen in severely affected individuals.
  • Aspiratory pneumonia or apnea, cardiac defects, and/or GI anomalies are reported as the most frequent direct causes of death.

Patient Education

  • The patient's education level depends on the intellectual potential. Incidental attendance of children with Brachmann-de Lange syndrome (BDLS) to normal schools is reported,36 but, in general, children need special education and care.32,34

Miscellaneous

Medicolegal Pitfalls

  • This relatively common multiple congenital anomaly/mental retardation (MCA/MR) disorder requires recognition to facilitate correct patient management.

Special Concerns

  • For information about the Cornelia de Lange Syndrome Foundation please visit the CdLS-USA Foundation Outreach Web site or contact the foundation at the address or phone numbers below.
    The Cornelia de Lange Syndrome Foundation, Inc
    302 West Main Street #100
    Avon, CT 06001
    800-223-8355 (Voice - Toll-free)
    800-753-2357 (Voice - Toll-free)
    860-676-8166 (Voice)
    860-676-8337 (FAX)
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.



More on de Lange Syndrome

Overview: de Lange Syndrome
Differential Diagnoses & Workup: de Lange Syndrome
Treatment & Medication: de Lange Syndrome
Follow-up: de Lange Syndrome
Multimedia: de Lange Syndrome
References
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Further Reading

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Keywords

de Lange syndrome, Cornelia de Lange syndrome, CdLS, Brachmann-de Lange syndrome, BDLS, de Lange syndrome, Amsterdam syndrome, typus degenerativus amstelodamensis, multiple congenital anomaly/mental retardation, MCA/MR, malformation syndrome, NIPBL, delangin, MIM 122470 (CDLS1), SMC1A (SMC1L1), MIM 300590 (CDLS2)

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Contributor Information and Disclosures

Author

Krystyna H Chrzanowska, MD, PhD, Head of Genetic Counseling Unit, Associate Professor, Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland
Disclosure: Nothing to disclose.

Coauthor(s)

Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Albert C Yan, MD, Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania
Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, Society for Investigative Dermatology, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine M Quirk, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania
Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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