Table 5.

CTCF-Related Disorder: Recommended Surveillance

System/ConcernEvaluationFrequency
Growth/Feeding
  • Measure growth parameters.
  • Evaluate nutrition status & safety of oral intake.
At each visit
Gastrointestinal Monitor for GERD &/or constipation.
Neurologic Monitor those w/seizures as clinically indicated.
Assess for new manifestations such as seizures or changes in tone.
Development Monitor developmental progress & educational needs.
Neurobehavioral/
Psychiatric 		Assess for anxiety, ADHD, ASD, aggression, & self-injury.
Sleep Monitor for signs & symptoms of sleep disturbance.
Immunologic Assess for frequent infections.
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Assess for signs & symptoms of scoliosis.At each visit until skeletal maturity
Cardiovascular Standard follow up w/cardiologist if anomalies are detected. 1As clinically indicated
Dental Dental evalAt least annually or as clinically indicated
Eyes Ophthalmology evalAt least annually or as clinically indicated
Hearing Audiology evalAt least annually through childhood or as clinically indicated
Family/Community Assess family need for social work support (e.g., home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit
Malignancy No tumor screening protocols have been developed or recommended at this time. 2NA

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; GERD = gastroesophageal reflux disease; NA = not applicable; OT = occupational therapy; PT = physical therapy

1.

Two individuals have been reported with mild aortic dilatation, both of whom were age ten years or younger at the time and both of whom had other cardiovascular findings (bicuspid aortic valve or pulmonary valve stenosis). It is unclear if individuals with CTCF-related disorder are at risk of progressive aortic dilatation.

2.

It is unclear if individuals with CTCF-related disorder are at increased risk above the general population of developing Wilms tumor or any other malignancy. Though no specific guidelines for surveillance for Wilms tumor have been proposed, providers may consider educating families on the symptoms/signs of Wilms tumor.

From: CTCF-Related Disorder

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