Clinical Guidance

No consistent genotype-phenotype correlations have been identified .

Source: GeneReviews — "CTCF-Related Disorder"

Diagnostic Criteria

No consensus clinical diagnostic criteria for CTCF-related disorder have been published.

Suggestive Findings

CTCF-related disorder should be considered in probands with the following clinical findings and family history.

Clinical findings

• Mild-to-profound developmental delay (DD) or intellectual disability (ID)

AND

Source: GeneReviews — "CTCF-Related Disorder"

Differential Diagnosis

The phenotypic features associated with CTCF-related disorder are not sufficient to diagnose this condition clinically; therefore, all conditions in which affected individuals have developmental delay and/or intellectual disability without other distinctive findings should be considered in the differential diagnosis, especially if the condition is also associated with feeding difficulties and growth deficiency. See OMIM Phenotypic Series for genes associated with:

• Autosomal dominant intellectual developmental disorder

• Autosomal recessive intellectual developmental disorder

• Nonsyndromic X-linked intellectual developmental disorders

• Syndromic X-linked intellectual developmental disorders

Source: GeneReviews — "CTCF-Related Disorder"

Management Guidelines

No clinical practice guidelines for CTCF-related disorder have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with CTCF-related disorder, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.

Table 3.

CTCF-Related Disorder: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Constitutional

| Measurement of growth parameters | To assess for poor growth, short stature, microcephaly

Craniofacial

| Assessment for palatal anomalies /or dental anomalies | Consider 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 eval | For persons age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD

Source: GeneReviews — "CTCF-Related Disorder"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "CTCF-Related Disorder"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. CTCF-Related Disorder: Recommended Surveillance

Source: GeneReviews — "CTCF-Related Disorder"