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de Lange Syndrome Treatment & Management

  • Author: Krystyna H Chrzanowska, MD, PhD; Chief Editor: William D James, MD  more...
 
Updated: Jul 10, 2014
 

Medical Care

A review of management and treatment for Cornelia de Lange syndrome (CDLS) has been published by FitzPatrick and Kline,[82] and management recommendations for older individuals have been reported.[42] Most comprehensive anticipatory guidance includes detailed clinical evaluation at the time of diagnosis, and assessment of different age groups until adulthood.[44]

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.[83] 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, although tolerance is poor.
  • Antiepileptic treatment may be required in a proportion of patients.
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Surgical Care

See the list below:

  • During anesthesia, special attention should be given to the risk of malignant hyperthermia, bronchospasm, anatomical abnormalities, and drug-sensitivity, because these complications have been reported in a few children with Cornelia de Lange syndrome (CDLS).[84]
  • 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

See the list below:

  • 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

See the list below:

  • 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, 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, Rutgers 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

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

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, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

References
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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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