Table 5. [Recommended Surveillance for Individuals with Type II Collagen Disorders]. - GeneReviews®

System/ Concern	Evaluation	Frequency
General health	Physical exam	Annually or as indicated
Cervical spine	Flexion-extension radiograph; flexion-extension MRI if instability & compression on radiographs or limited interpretation on radiographs	Every 2-3 yrs in those w/severe type II collagen disorder & no instability
Thoracolumbar spine	Clinical exam; radiographs when indicated	Every 6-12 mos, depending on severity
Respiratory	Pulmonary function tests; polysomnography	On a regular basis in persons w/severe type II collagen disorder or severe progressive kyphoscoliosis
Eyes	Dilated eye exam	Annually unless complications; consider prophylactic retinopexy in Stickler syndrome type 1 (COL2A1-related)
ENT/ Mouth	Hearing eval; eval for cleft palate & palatal insufficiency	Every 6-12 mos depending on severity
Feeding	Swallowing assessment	On a regular basis until normal feeding
Musculoskeletal	Clinical exam; referral to orthopedic surgeon if indicated; referral to physiotherapist if indicated	Annually or as indicated
Obesity	Weight
Psychosocial concerns	Specific attention to any issues when taking history & during physical exam

From: Type II Collagen Disorders Overview

GeneReviews^® [Internet].

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

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