Clinical Guidance

No clinically relevant genotype-phenotype correlations have been identified.

Source: GeneReviews — "Zhu-Tokita-Takenouchi-Kim Syndrome"

Diagnostic Criteria

Suggestive Findings

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome should be considered in individuals with the following clinical and imaging findings and family history.

Clinical findings

Source: GeneReviews — "Zhu-Tokita-Takenouchi-Kim Syndrome"

Differential Diagnosis

The phenotypic features associated with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome are not sufficient to diagnose this condition clinically. All disorders with developmental delay and intellectual disability without other distinctive findings should be considered in the differential diagnosis. See OMIM Phenotypic Series for genes associated with:

• Autosomal dominant intellectual developmental disorders;

• Autosomal recessive intellectual developmental disorders;

• Nonsyndromic x-linked intellectual developmental disorders;

• Syndromic x-linked intellectual developmental disorders.

Source: GeneReviews — "Zhu-Tokita-Takenouchi-Kim Syndrome"

Management Guidelines

No clinical practice guidelines for Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome have been published.

Evaluations Following Initial Diagnosis

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

Table 3.

Zhu-Tokita-Takenouchi-Kim Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Development

| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval

• Eval for early intervention/ special education

Neurologic

| • Neurologic eval

• Assess for seizures movement disorder.

| • To incl brain MRI

• Consider EEG.

Neurobehavioral/

Psychiatric

| Neuropsychiatric eval | For persons age 12 mos: screening for concerns incl sleep disturbances findings suggestive of ASD

Musculoskeletal

| Orthopedics/ physical medicine rehab/ PT OT eval incl assessment for craniosynostosis | To incl assessment of:

• Gross motor fine motor skills

• Kyphoscoliosis, contractures, hypermobility, other musculoskeletal abnormalities

• Mobility, ADL, need for adaptive devices

• Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)

Eyes | Ophthalmologic eval | To assess for vision, abnormal ocular movement, best corrected visual acuity, refractive errors, strabismus

Nutrition/Feeding/

Gastrointestinal

| • Assess weight, length head circumference.

Source: GeneReviews — "Zhu-Tokita-Takenouchi-Kim Syndrome"

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 — "Zhu-Tokita-Takenouchi-Kim Syndrome"

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. Zhu-Tokita-Takenouchi-Kim Syndrome: Recommended Surveillance

Source: GeneReviews — "Zhu-Tokita-Takenouchi-Kim Syndrome"