de Lange Syndrome Treatment & Management

  • Author: Krystyna H Chrzanowska, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 25, 2012
 

Medical Care

A review of management and treatment for Cornelia de Lange syndrome (CDLS) has been published by FitzPatrick and Kline,[74] and management recommendations for older individuals have been reported.[35] Most comprehensive anticipatory guidance includes detailed clinical evaluation at the time of diagnosis, and assessment of different age groups until adulthood.[37]

The results of medical therapy are better in infants than in older children.

  • Patients with symptoms of gastroesophageal reflux (GER) require intensive medical therapy. Frequent use of antacids, histamine-2 blockers, and metoclopramide can be helpful.[75] Feeding by a nasogastric tube and by having the patient sit upright may be beneficial.
  • Application of appropriate hearing aids is recommended in children with hearing deficits.
  • Antiepileptic treatment may be required in a proportion of patients.
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Surgical Care

  • During anesthesia, special attention should be given to the risk of malignant hyperthermia because this complication has been reported in a few children with Cornelia de Lange syndrome (CDLS).[76]
  • Operative procedures, including Nissen fundoplication and gastrostomy tube (G-tube) placement for feeding, may be necessary in patients with severe esophagitis and in those with worsening failure to thrive despite conservative intervention.
  • Surgical repair may also be indispensable in patients with diaphragmatic hernia, cardiac defects, or severe skeletal deformities.
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Consultations

  • Patients may require various specialist consultations, depending on the clinical manifestations and the physical examination findings. Specialists may include the following:
    • Gastroenterologist
    • Cardiologist
    • Pulmonologist
    • Laryngologist/audiologist
    • Ophthalmologist
    • Neurologist
    • Nephrologist/urologist
    • Endocrinologist
  • Genetic counseling provides families with information on the nature of the disease and the low risk of recurrence. Careful clinical examination of the parents for minor signs is recommended because autosomal dominant inheritance has been implicated in some families (see Deterrence/Prevention).
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Activity

  • In general, children with Cornelia de Lange syndrome (CDLS) have difficulty accepting sudden changes in their daily routine and environment.
  • Activities that stimulate the vestibular system, including swinging, bouncing, swimming, and horseback riding, are pleasurable to the patient.
  • The use of sign language can help the patient to overcome frustration caused by expressive speech delay.
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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, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Albert C Yan, MD  Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

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.

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.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-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.

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, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

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.

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Case study 1 of classic de Lange phenotype is shown (same patient as in Images 2-6). Facial characteristics of a 10-month-old girl are pictured. Note well-defined eyebrows with synophrys, depressed nasal bridge, and long smooth philtrum.
Case study 1 (same patient as in Images 1 and 3-6). Lateral facial profile is pictured. The eyebrows are neat, arched, and well defined. The nasal bridge is depressed, and the nares are upturned.
Case study 1 (same patient as in Images 1-2 and 4-6). The patient, aged 5 years, is shown; note microbrachycephaly, well-defined eyebrows, anteverted nares, long and thin upper lip, down-turned angles of mouth, and widely spaced teeth.
Case study 1 (same patient as in Images 1-3 and 5-6). Upper limb reduction anomalies are pictured with only 2 fingers present.
Case study 1 (same patient as in Images 1-4 and 6). Note short hypoplastic fifth finger.
Case study 1 (same patient as in Images 1-5). Small feet with short hypoplastic toes and syndactyly of the second and third toes is pictured.
Case study 2 of mild de Lange syndrome is shown (same patient as in Images 8-10). The face of a 1.5-year-old girl is pictured. Note neat eyebrows with delicate synophrys, long eyelashes, depressed nasal bridge, upturned nares, long philtrum, thin upper lip, and small chin.
Case study 2 (same patient as in Images 7 and 9-10). Lateral facial profile shows depressed nasal bridge, thin upper lip, and small mandible.
Case study 2 (same patient as in Images 7-8 and 10). The patient, aged 8 years, is shown; note delicate synophrys of the eyebrows, upturned nares, long philtrum, and thin upper lip.
Case study 2 (same patient as in Images 7-9). Lateral facial profile of the patient, aged 8 years, is shown.
 
 
 
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