Table 6. [Osteoglophonic Dysplasia: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Musculoskeletal	Mgmt per skeletal dysplasia or physiatry clinic (orthopedics, rehab specialist)	Address mobility issues in those w/bone deformities.
Developmental delay	Early intervention & ongoing PT, OT, & speech therapy to optimize developmental outcomes
Craniosynostosis	In general, multisuture craniosynostosis should be surgically repaired in 1st year of life.	Specific timing is guided by child's anatomy, risk for ↑ intracranial pressure, & respiratory status.
Proptosis	Early initiation of topical eye lubrication if inadequate lid closure	Tarsorrhaphy may be indicated, e.g., w/globe subluxation or to prevent globe luxation &/or exposure keratopathy.
Midface retrusion	Jaw surgery to advance the midface	Typically in childhood or adolescence Early midface advancement may be pursued to treat airway obstruction.
Dental	Pediatric dental care & eval by craniofacial orthodontist as part of coordinated craniofacial team care	Orthodontist plays an important role in determining type & timing of orthodontic & orthognathic interventions.
Sleep apnea	Surgical interventions (adenoidectomy, nasal airway procedures) are often helpful.	Avoid use of CPAP/BiPAP for long-term treatment of sleep apnea when possible, as pressure on midface exacerbates midface retrusion.
Hypophosphatemia	Treatment w/phosphate as needed per endocrinologist
Hernia	Standard treatment per gastroenterologist/surgeon

Manifestation/Concern

Treatment

Considerations/Other

Musculoskeletal

Mgmt per skeletal dysplasia or physiatry clinic (orthopedics, rehab specialist)

Address mobility issues in those w/bone deformities.

Developmental delay

Early intervention & ongoing PT, OT, & speech therapy to optimize developmental outcomes

Craniosynostosis

In general, multisuture craniosynostosis should be surgically repaired in 1st year of life.

Specific timing is guided by child's anatomy, risk for ↑ intracranial pressure, & respiratory status.

Proptosis

Early initiation of topical eye lubrication if inadequate lid closure

Tarsorrhaphy may be indicated, e.g., w/globe subluxation or to prevent globe luxation &/or exposure keratopathy.

Midface retrusion

Jaw surgery to advance the midface

Typically in childhood or adolescence
Early midface advancement may be pursued to treat airway obstruction.

Dental

Pediatric dental care & eval by craniofacial orthodontist as part of coordinated craniofacial team care

Orthodontist plays an important role in determining type & timing of orthodontic & orthognathic interventions.

Sleep apnea

Surgical interventions (adenoidectomy, nasal airway procedures) are often helpful.

Avoid use of CPAP/BiPAP for long-term treatment of sleep apnea when possible, as pressure on midface exacerbates midface retrusion.

Hypophosphatemia

Treatment w/phosphate as needed per endocrinologist

Hernia

Standard treatment per gastroenterologist/surgeon

From: Osteoglophonic Dysplasia

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

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