Table 4. [Treatment of Manifestations in Individuals with Type II Collagen Disorders]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Cervical spine instability w/spine compression	Surgical management for medullopathy (C1-C2 fixation)	Management by an expert familiar w/rare skeletal dysplasia & spine involvement
Scoliosis	Surgery for severe, progressive scoliosis	In young children, progressive scoliosis can be treated non-surgically (e.g., brace).
Respiratory insufficiency	Supported ventilation, CPAP; surgery of cleft palate
Sleep apnea	Referral to pulmonologist & sleep medicine physician; supported ventilation, CPAP, surgery of PRS	In case of central sleep apnea as a result of unrecognized unstable cervical spine, referral for eval & management
Cleft palate	Surgery
High myopia, vitroretinal complications, & early cataract	Refractive errors should be corrected w/spectacles. Persons at risk should be informed about signs & symptoms of retinal detachment & advised about immediate eval & treatment, when symptoms occur.	Management of vitreoretinal complications by expert ophthalmologist familiar w/the ophthalmic complications. Consider prophylactic retinopexy in Stickler syndrome type 1 (COL2A1-related).
Hearing impairment	Hearing aids &/or surgery if indicated
Joint problems (laxity, contractures, pain due to early-onset arthrosis)	Referral to orthopedic surgeon for eval; referral to PT; referral to OT if indicated; analgesics	Advice on joint-friendly activities (e.g., swimming, cycling); consider need for a mobility device; avoidance of physical activities that strain joints, when possible
Lower-limb malalignment	Guided growth surgery; osteotomy
Obesity	Referral to clinical nutritionist	Even if weight is normal, importance of avoiding obesity should be emphasized.
Psychosocial problems	Referral to resources; referral to psychologist

Manifestation/
Concern

Treatment

Considerations/Other

Cervical spine instability w/spine compression

Surgical management for medullopathy (C1-C2 fixation)

Management by an expert familiar w/rare skeletal dysplasia & spine involvement

Scoliosis

Surgery for severe, progressive scoliosis

In young children, progressive scoliosis can be treated non-surgically (e.g., brace).

Respiratory insufficiency

Supported ventilation, CPAP; surgery of cleft palate

Sleep apnea

Referral to pulmonologist & sleep medicine physician; supported ventilation, CPAP, surgery of PRS

In case of central sleep apnea as a result of unrecognized unstable cervical spine, referral for eval & management

Cleft palate

Surgery

High myopia, vitroretinal complications, & early cataract

Refractive errors should be corrected w/spectacles. Persons at risk should be informed about signs & symptoms of retinal detachment & advised about immediate eval & treatment, when symptoms occur.

Management of vitreoretinal complications by expert ophthalmologist familiar w/the ophthalmic complications. Consider prophylactic retinopexy in Stickler syndrome type 1 (COL2A1-related).

Hearing impairment

Hearing aids &/or surgery if indicated

Joint problems (laxity, contractures, pain due to early-onset arthrosis)

Referral to orthopedic surgeon for eval; referral to PT; referral to OT if indicated; analgesics

Advice on joint-friendly activities (e.g., swimming, cycling); consider need for a mobility device; avoidance of physical activities that strain joints, when possible

Lower-limb malalignment

Guided growth surgery; osteotomy

Obesity

Referral to clinical nutritionist

Even if weight is normal, importance of avoiding obesity should be emphasized.

Psychosocial problems

Referral to resources; referral to psychologist

From: Type II Collagen Disorders Overview

GeneReviews^® [Internet].

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

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