Table 4. [Treacher Collins Syndrome: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Eyes	Ophthalmologic eval w/attention to extraocular movement, corneal exposure, & visual acuity
Hearing	Formal audiology eval (See Genetic Hearing Loss Overview.)	In those w/conductive hearing loss identified at age <6 mos: craniofacial CT scan (axial & coronal slices) to assess anatomy of head & neck, external auditory canal, middle ear, & inner ear
Respiratory	Assess for choanal atresia/stenosis, micrognathia, & glossoptosis predisposing to obstruction of oropharynx.	If obstructive sleep apnea is suspected, consider sleep study.
Feeding/Nutrition	Assess for cleft palate & swallowing function.
Dental	Assess for dental anomalies.	When teeth have erupted
Cardiac	Cardiology eval w/echocardiogram	To assess for structural heart defects
Gastrointestinal	In those w/persistent feeding issues, consider assessment for pyloric stenosis, esophageal abnormalities, & intestinal pseudo-obstruction.
Musculoskeletal	Clinical assessment for spine & limb anomalies w/radiographs as needed
Renal	Renal ultrasound	To assess for structural renal defects
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of TCS to facilitate medical & personal decision making
Family support & resources	By clinicians, wider care team, & family support organizations	Assessment of family & social structure to determine need for: Community or online resources such as Parent to Parent Social work involvement for parental support Home nursing referral

System/Concern

Evaluation

Comment

Eyes

Ophthalmologic eval w/attention to extraocular movement, corneal exposure, & visual acuity

Hearing

Formal audiology eval (See Genetic Hearing Loss Overview.)

In those w/conductive hearing loss identified at age <6 mos: craniofacial CT scan (axial & coronal slices) to assess anatomy of head & neck, external auditory canal, middle ear, & inner ear

Respiratory

Assess for choanal atresia/stenosis, micrognathia, & glossoptosis predisposing to obstruction of oropharynx.

If obstructive sleep apnea is suspected, consider sleep study.

Feeding/Nutrition

Assess for cleft palate & swallowing function.

Dental

Assess for dental anomalies.

When teeth have erupted

Cardiac

Cardiology eval w/echocardiogram

To assess for structural heart defects

Gastrointestinal

In those w/persistent feeding issues, consider assessment for pyloric stenosis, esophageal abnormalities, & intestinal pseudo-obstruction.

Musculoskeletal

Clinical assessment for spine & limb anomalies w/radiographs as needed

Renal

Renal ultrasound

To assess for structural renal defects

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of TCS to facilitate medical & personal decision making

Family support
& resources

By clinicians, wider care team, & family support organizations

Assessment of family & social structure to determine need for:

Community or online resources such as Parent to Parent
Social work involvement for parental support
Home nursing referral

From: Treacher Collins Syndrome

GeneReviews^® [Internet].

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

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