Table 6.

Treatment of Manifestations in Individuals with Cornelia de Lange Syndrome

Poor weight gain /
Failure to thrive
Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.
  • Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
  • Referral to a nutritionist may be considered.
reflux disease
  • Proactive mgmt of GERD w/very ↓ threshold for medical therapy
  • Standard medication & postprandial positioning
Consider fundoplication if symptoms are severe.
Malrotation Surgical correction
Epilepsy Standard treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for CdLS.
  • Education of parents/caregivers 1
DD/ID See Developmental Delay / Intellectual Disability Management Issues.Early implementation of speech therapy
Limb defects Consideration of surgical intervention of arms/handsRarely needed
Orthopedics / physical medicine & rehab / PT & OTConsider need for positioning & mobility devices, disability parking placard.
Ptosis, strabismus,
&/or abnormal vision
Standard treatment(s) as recommended by ophthalmologistCommunity vision services through early intervention or school district
Nasolacrimal duct
Aggressive treatment per ophthalmologistMassage therapy is often unsuccessful because of narrow malformed ducts.
Hearing Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
Cleft palate Standard treatment per multidisciplinary craniofacial team, if possible
Anomalies of tooth
formation &/or
Standard treatment per dentist &/or orthodontist
Congenital heart
Standard treatment per cardiologist
Standard treatment by urologist
Bicornuate uterus Standard treatment per gynecologist
Anemia &/or
Eval by hematologistSevere thrombocytopenia may require IVIgG &/or steroid treatment.
Immunodeficiency Standard treatment by immunologistUnless specific concerns, routine immunizations should be given.
Surgical risks
  • Preoperative eval for thrombocytopenia & cardiac disease
  • Sedation &/or operative procedures w/anesthesiologists experienced in mgmt of small airways present in CdLS
Adverse reactions to midazolam & malignant hyperthermia have been seen, although rare 2 (see Malignant Hyperthermia Susceptibility).
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability; GERD = gastroesophageal reflux disease; OT = occupational therapy; PT = physical therapy


Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.


From: Cornelia de Lange Syndrome

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