Table 5. [MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated...]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Growth deficiency	GH therapy can be tried, but outcome is uncertain. It is unknown if GH therapy can lead to worsening of disproportionate growth in those w/spinal dysplasia.	GH therapy improved growth velocity in 1 person, ¹ there was no benefit in another person. ²
Kyphoscoliosis/ Scoliosis	Operative mgmt may be warranted in those w/neurologic manifestations. In those w/o neurologic compromise, procedures such as vertebroplasty & kyphoplasty may be considered for vertebral augmentation.	Operative mgmt may be indicated in those who have failed conservative therapy, experience intractable pain, have an onset of neurologic changes, or have persistent progression despite bracing.
Reduced bone density	Vitamin D & calcium may be used as a supplement for reduced bone density.
Hip dysplasia	Treatment per orthopedist
Craniosynostosis	Treatment per craniofacial specialist
Hernia	Surgical repair per surgeon &/or gastroenterologist
Cataract	Surgical removal of cataract per ophthalmologist
Developmental delay	Physical therapy	To maximize mobility & reduce risk for later-onset orthopedic complications (e.g., scoliosis)
Developmental & educational support incl: Early intervention programs Early childhood education Early & periodic screening, diagnosis, & treatment (EPSDT)

Manifestation/Concern

Treatment

Considerations/Other

Growth deficiency

GH therapy can be tried, but outcome is uncertain.
It is unknown if GH therapy can lead to worsening of disproportionate growth in those w/spinal dysplasia.

GH therapy improved growth velocity in 1 person, ¹ there was no benefit in another person. ²

Kyphoscoliosis/
Scoliosis

Operative mgmt may be warranted in those w/neurologic manifestations.
In those w/o neurologic compromise, procedures such as vertebroplasty & kyphoplasty may be considered for vertebral augmentation.

Operative mgmt may be indicated in those who have failed conservative therapy, experience intractable pain, have an onset of neurologic changes, or have persistent progression despite bracing.

Reduced bone density

Vitamin D & calcium may be used as a supplement for reduced bone density.

Hip dysplasia

Treatment per orthopedist

Craniosynostosis

Treatment per craniofacial specialist

Hernia

Surgical repair per surgeon &/or gastroenterologist

Cataract

Surgical removal of cataract per ophthalmologist

Developmental delay

Physical therapy

To maximize mobility & reduce risk for later-onset orthopedic complications (e.g., scoliosis)

Developmental & educational support incl:

Early intervention programs
Early childhood education
Early & periodic screening, diagnosis, & treatment (EPSDT)

From: MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes

GeneReviews^® [Internet].

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

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