Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with SCS]. - GeneReviews®

Organ System	Evaluation	Comment
Constitutional	Measure height & growth velocity.	If short stature &/or ↓ linear growth velocity, eval by an endocrinologist
Eyes	Ophthalmologic evaluation	Evaluate for ptosis, strabismus, amblyopia, lacrimal duct stenosis, & papilledema as evidence of ↑ ICP.
ENT/Mouth	Evaluate for cleft palate.	If present, assess for feeding ability & growth.
Audiologic screening for hearing loss	If present, assess for hearing aid.
Cardiovascular	Routine cardiac exam	Refer if suspicion of cardiac disease.
Respiratory	Assess for sleep apnea.	If suspected, refer for polysomnogram.
Musculoskeletal	Evaluate for craniosynostosis & facial asymmetry.	CT scan if suspected clinically
Screen for vertebral (particularly cervical) anomalies.	At age ~2 yrs, ↑ mineralization of vertebrae allows for better interpretation of flexion/extension views of cervical spine in eval for functional instability. Such screening is appropriate before initiating activities that put the spine at risk (e.g., surgeries w/long duration, gymnastics, football, soccer).
Examine upper & lower extremities for anomalies.	If suspected, follow up w/radiographic & orthopedic evaluations
Miscellaneous/ Other	Developmental assessment	Esp in those w/chromosome deletion involving TWIST1. If delay suspected, refer for early intervention.
Consultation w/clinical geneticist &/or genetic counselor

Organ System

Evaluation

Comment

Constitutional

Measure height & growth velocity.

If short stature &/or ↓ linear growth velocity, eval by an endocrinologist

Eyes

Ophthalmologic evaluation

Evaluate for ptosis, strabismus, amblyopia, lacrimal duct stenosis, & papilledema as evidence of ↑ ICP.

ENT/Mouth

Evaluate for cleft palate.

If present, assess for feeding ability & growth.

Audiologic screening for hearing loss

If present, assess for hearing aid.

Cardiovascular

Routine cardiac exam

Refer if suspicion of cardiac disease.

Respiratory

Assess for sleep apnea.

If suspected, refer for polysomnogram.

Musculoskeletal

Evaluate for craniosynostosis & facial asymmetry.

CT scan if suspected clinically

Screen for vertebral (particularly cervical) anomalies.

At age ~2 yrs, ↑ mineralization of vertebrae allows for better interpretation of flexion/extension views of cervical spine in eval for functional instability.
Such screening is appropriate before initiating activities that put the spine at risk (e.g., surgeries w/long duration, gymnastics, football, soccer).

Examine upper & lower extremities for anomalies.

If suspected, follow up w/radiographic & orthopedic evaluations

Miscellaneous/
Other

Developmental assessment

Esp in those w/chromosome deletion involving TWIST1. If delay suspected, refer for early intervention.

Consultation w/clinical geneticist &/or genetic counselor

From: Saethre-Chotzen Syndrome

GeneReviews^® [Internet].

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

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