Table 8. [Treatment of Manifestations in Individuals with X-Linked Otopalatodigital Spectrum Disorders]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Hand & foot malformations	Surgical treatment may be required.
Scoliosis	Monitoring & surgical intervention as required	Surgery for scoliosis has had satisfactory results in several persons.
Contractures	Physiotherapy
Limb bowing		Surgical correction of limb bowing has not been reported.
Fronto-orbital deformity	Cosmetic surgery	Surgery attempted in some persons; regrowth following surgery does not appear to occur [Kung & Sloan 1998].
Thoracic hypoplasia	Chest expansion surgery	Has been attempted in several persons w/MNS w/marginal clinical benefit
Apnea	CPAP [Lan et al 2006] Mandibular distraction	Micrognathia & tracheobronchomalacia in severely affected persons can → airway collapse & sleep apnea that have been successfully corrected in the most severe instances of MNS.
Deafness	Hearing aids	Attempts to separate fused & misshapen ossicles are usually unsuccessful & can → formation of a perilymphatic gusher.
Laryngeal stenosis	Eval w/anesthesiology if intubation & ventilation are required due to laryngeal stenosis	Laryngeal stenosis rarely requires surgical intervention & is non-progressive w/growth.

Manifestation/Concern

Treatment

Considerations/Other

Hand & foot
malformations

Surgical treatment may be required.

Scoliosis

Monitoring & surgical intervention as required

Surgery for scoliosis has had satisfactory results in several persons.

Contractures

Physiotherapy

Limb bowing

Surgical correction of limb bowing has not been reported.

Fronto-orbital
deformity

Cosmetic surgery

Surgery attempted in some persons; regrowth following surgery does not appear to occur [Kung & Sloan 1998].

Thoracic hypoplasia

Chest expansion surgery

Has been attempted in several persons w/MNS w/marginal clinical benefit

Apnea

CPAP [Lan et al 2006]
Mandibular distraction

Micrognathia & tracheobronchomalacia in severely affected persons can → airway collapse & sleep apnea that have been successfully corrected in the most severe instances of MNS.

Deafness

Hearing aids

Attempts to separate fused & misshapen ossicles are usually unsuccessful & can → formation of a perilymphatic gusher.

Laryngeal stenosis

Eval w/anesthesiology if intubation & ventilation are required due to laryngeal stenosis

Laryngeal stenosis rarely requires surgical intervention & is non-progressive w/growth.

From: X-Linked Otopalatodigital Spectrum Disorders

GeneReviews^® [Internet].

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

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