eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Cornelia De Lange Syndrome: Follow-up

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

Follow-up

Prognosis

  • Causes of death in Cornelia de Lange syndrome (CdLS) include apnea after respiratory aspiration, cardiac malformations, and complications related to GI problems, especially due to volvulus.

Patient Education

  • Teaching methods of conveying pleasure and affection that do not require facial expression can improve acceptance by relatives.
  • Resources for parent education may be found at the CDLS Foundation Web site.

Miscellaneous

Medicolegal Pitfalls

  • Anatomic abnormalities of the face and neck may cause difficulties during intubation.
  • Failure to detect a mildly affected parent may result in incorrect risk estimation for future pregnancies.

Special Concerns

  • Severe speech delay and poor communication are concerns.
  • The patient may have congenital heart disease.
  • GI obstruction or feeding difficulties may occur. Early feeding management is important.
  • A prenatal diagnosis is made after Cornelia de Lange syndrome (CdLS)-related abnormalities are carefully evaluated using prenatal ultrasonography. These abnormalities include growth retardation, limb defects, diaphragmatic hernia, hypoplastic forearms, underdeveloped hands, and typical facial defects.
  • The availability of molecular diagnosis should substantially improve prenatal diagnosis. Prenatal diagnosis with molecular genetic techniques is currently available if a mutation is known in the family.
 


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

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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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