Table 3.

CTCF-Related Disorder: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Constitutional Measurement of growth parametersTo assess for poor growth, short stature, & microcephaly
Craniofacial Assessment for palatal anomalies &/or dental anomaliesConsider referral to a craniofacial clinic.
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk, nutritional status, GERD, & constipation
  • Consider eval for feeding therapy or gastrostomy tube placement in affected persons w/dysphagia &/or aspiration risk.
  • Assess for intestinal malrotation & GI anomalies prior to gastrostomy tube placement.
Neurologic Neurologic eval
  • To incl brain MRI as clinically indicated
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurobehavioral/
Psychiatric 		Neuropsychiatric evalFor persons age >12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD
Eyes Ophthalmologic evalTo assess for strabismus, ptosis, or refractive errors
Hearing Audiologic evalTo assess for hearing loss
Musculoskeletal Clinical assessment for scoliosis, hip dysplasia, & ankle or foot anomaliesConsider spinal radiographs &/or referral to orthopedist.
Physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Sleep Assessment for signs & symptoms of sleep disturbanceConsider referral to a sleep disorders specialist.
Immunologic Assessment for history of recurrent infections
  • Consider referral to appropriate specialist (pulmonologist if respiratory concerns, ENT if recurrent otitis media, dermatologist if impetigo is present, or nephrologist if there are multiple urinary tract infections).
  • Consider referral to immunologist if recurrent, severe infections are present.
Genitourinary Assessment for genital anomalies, incl cryptorchidism & hypospadias in malesConsider referral to urologist.
Renal ultrasoundTo evaluate for renal anomalies & hydronephrosis
Cardiovascular EchocardiogramTo evaluate for structural heart defects & aortic ectasia
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of CTCF-related disorder to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; ENT = ear, nose, and throat specialist (otolaryngologist); GERD = gastroesophageal reflux disease; GI = gastrointestinal; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: CTCF-Related Disorder

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