Table 3. [Recommended Evaluations for CDK13 Disorder Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Assessment of height & weight for failure to thrive
Eyes	Ophthalmologic eval for strabismus, nystagmus, &/or refractive error
ENT/Mouth	Baseline dental eval for wide-spaced peg-shaped teeth	Referral to orthodontist if significant dental abnormalities
Cardiovascular	Baseline echocardiogram for structural cardiac anomalies
Gastrointestinal/ Feeding	Assess swallowing, feeding, nutritional status, weight gain. Assess for severe constipation / anal stenosis.	Assess for need for tube feeding. Determine if constipation requires specialized care.
Genitourinary	Renal ultrasound	To assess for renal structural abnormalities
Musculoskeletal	Spinal imaging to evaluate for scoliosis, lordosis, cervical vertebral fusions, & sacral abnormalities
Physical exam to evaluate for joint contractures
Eval for abnormal head shape	If present, consider imaging studies to evaluate for craniosynostosis.
Neurologic	Neurologic eval	Brain MRI EEG if seizure activity is suspected
Psychiatric/ Behavioral	Neuropsychiatric eval	Screen persons age >12 mos for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
Miscellaneous/ Other	Developmental assessment	To incl motor, speech/language eval, general cognitive, & vocational skills
Consultation w/clinical geneticist &/or genetic counselor

System/Concern

Evaluation

Comment

Constitutional

Assessment of height & weight for failure to thrive

Eyes

Ophthalmologic eval for strabismus, nystagmus, &/or refractive error

ENT/Mouth

Baseline dental eval for wide-spaced peg-shaped teeth

Referral to orthodontist if significant dental abnormalities

Cardiovascular

Baseline echocardiogram for structural cardiac anomalies

Gastrointestinal/
Feeding

Assess swallowing, feeding, nutritional status, weight gain.
Assess for severe constipation / anal stenosis.

Assess for need for tube feeding.
Determine if constipation requires specialized care.

Genitourinary

Renal ultrasound

To assess for renal structural abnormalities

Musculoskeletal

Spinal imaging to evaluate for scoliosis, lordosis, cervical vertebral fusions, & sacral abnormalities

Physical exam to evaluate for joint contractures

Eval for abnormal head shape

If present, consider imaging studies to evaluate for craniosynostosis.

Neurologic

Neurologic eval

Brain MRI
EEG if seizure activity is suspected

Psychiatric/
Behavioral

Neuropsychiatric eval

Screen persons age >12 mos for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.

Miscellaneous/
Other

Developmental assessment

To incl motor, speech/language eval, general cognitive, & vocational skills

Consultation w/clinical geneticist &/or genetic counselor

From: CDK13-Related Disorder

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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