Here you will find information to support the care of an individual with CdLS

The Canadian CdLS Foundation supports the published Expert Consensus Document "Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement" (October 2018).  This document should be used to guide assessment, treatment and management of Canadians with CdLS. Download PDF here

A particularly frequent occurence in individuals with CdLS is related to Gastrointestinal challenges, therefore a specific briefing letter has been provided by Dr. Margaret (Peggy) Marcon (Medical Director and Paediatric Gastroenterologist-Sick Kids) to guide assessment and treatment of individuals with CdLS in Canada.  Download PDF here.

If you are a primary care provider needing consultation please contact Dr. Peggy Marcon at peggy.marcon@sickkids.ca or by phone at 416-813-7735.

Learn more about Cornelia de Lange Syndrome:

  • Diagnosis

  • Genes known to cause CdLS

  • Gastrointestinal

  • Anesthesia and Airway Management Best Practices for CdLS (physicians)

  • Anesthesia and Airway Management Best Practices for CdLS (families)

  • CdLS & Anesthesia

  • Cardiology

    • Echocardiogram at time of diagnosis.

    • Whenever any surgery is performed, all involved specialists should be consulted in order to maximize the use of anesthesia and so that the individual can undergo diagnostic or management studies as needed at the same time.

  • Development and early intervention

    • An individual with CdLS should have regular evaluations and immunizations with the primary care provider/paediatrician​

    • Developmental assessment in infancy and continuing every one to three years

    • Ongoing developmental services, with school placement and therapy issues individualized.  Most individuals will benefit from physical, occupational and speech therapy.

    • The use of sign language is encouraged since this will help facilitate oral communication, as will communication boards and other tools.

    • Follow-up with appropriate subspecialists as needed.

    • Discuss job training or work issues, higher education.

    • It is important that individuals with CdLS be evaluated and followed at some regular interval for gastroesophageal reflux disease (GERD).  Unexplained pain/discomfort or acting out may be due to an underlying medical condition.

  • Opthalmology

    • Paedeatric opthalmology evaluation with cycloplegic refraction once or twice annually as indicated by findings on first examination.

    • Be aware that with high myopia (extreme nearsightedness) there is a risk of retinal detachment.

    • Blepharitis (crusted eyes) can be safely and effectively managed with baby shampoo washes.

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