Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Cornelia de Lange Syndrome

System/ConcernEvaluationComment
Constitutional Measurement of growth parametersCdLS-specific growth charts are available. 1
Neurologic Neurologic evalConsider EEG if seizures are a concern.
Development Developmental assessment
  • Motor, adaptive, cognitive, & speech/language eval. Speech therapy is highly recommended to optimize communication skills & should be implemented in 1st 18 mos of life.
  • Eval for early intervention / special education
Behavioral Neuropsychiatric evalFor persons age >12 mos: screen for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD.
Musculoskeletal Consider radiographs of upper extremitiesTo assess for radioulnar synostosis
Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Limb deficiencies
  • Scoliosis
  • Mobility, activities of daily living, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • Consider upper GI series to evaluate for malrotation.
  • Consider endoscopy, pH probe for severe or refractory GERD.
  • Eval of aspiration risk
  • Eval of nutritional status
  • Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.
Eyes Ophthalmologic evalIncl eval for nasolacrimal duct patency, ptosis, assessment of visual acuity, dilated fundus exam, measurement of intraocular pressure
Hearing Audiologic eval 2Assess for hearing loss.
ENT/Mouth Clinical assessment for cleft palate
  • Examination of palate by both inspection & palpation at diagnosis
  • In case of symptoms of a (submucous) cleft palate, referral for specialist assessment is indicated.
Dental Dental assessmentIn infancy in those w/cleft palate or after tooth eruption
Cardiovascular EchocardiogramAssessment for congenital heart defects
Genitourinary Assessment for cryptorchidism &/or hypospadias in malesConsider referral to urologist.
Renal ultrasoundEvaluate for structural kidney anomalies.
Consider VCUG.To assess for vesicoureteral reflux, as clinically indicated
Consider pelvic ultrasound.In females of pubertal age to screen for uterine anomalies
Hematologic Complete blood countIf signs of anemia, bruising, &/or bleeding
Immunologic Complete blood count & immune profile 3If recurrent infections are present, consider referral to immunologist.
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Family support
& resources		Assess need for:

ASD = autism spectrum disorder; GERD = gastrointestinal reflux disease; OT = occupational therapy; PT = physical therapy; VCUG = vesicoureterogram

1.
2.

To include auditory brain stem response testing and otoacoustic emissions testing

3.

Quantitative immunoglobulins; antibodies to tetanus, diptheria, and pneumococcus; B-cell panel; T-cell panel

From: Cornelia de Lange Syndrome

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