Table 6.

Treatment of Manifestations in Individuals with Cornelia de Lange Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
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.
Gastroesophageal
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
obstruction 		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
positioning 		Standard treatment per dentist &/or orthodontist
Congenital heart
defects 		Standard treatment per cardiologist
Cryptorchidism/
Hypospadias 		Standard treatment by urologist
Vesicoureteral
reflux
Bicornuate uterus Standard treatment per gynecologist
Anemia &/or
thrombocytopenia 		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).
Family/Community
  • 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

1.

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.

2.

From: Cornelia de Lange Syndrome

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