Cornelia De Lange Syndrome Treatment & Management

Updated: May 30, 2017
  • Author: Mustafa Tekin, MD; Chief Editor: Maria Descartes, MD  more...
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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. A retrospective study by Janek et al indicated that hearing loss in Cornelia de Lange syndrome can improve over time. More than half of the study’s 78 patients, seen in an adult Cornelia de Lange syndrome clinic, reported hearing improvement, including a subset of patients with sensorineural hearing loss. [18]

Psychomotor delay

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.

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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
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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
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