Table 4. [Treatment of Manifestations in Individuals with FKBP14-kEDS]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Severe scoliosis	Standard treatment, ideally in multidisciplinary setting	Surgery may be indicated for severe scoliosis. At surgery caution should be taken due to risk for vascular complications, atlantoaxial instability, & primary muscle disease.
Clubbed foot/ Foot deformity	Standard treatment, ideally in multidisciplinary setting	Orthopedic shoe insoles may be beneficial for those w/foot deformity & joint instability
Osteopenia/ Osteoporosis	Standard treatment
Age-dependent muscle decline	PT program	Orthopedists, rehab medicine, & PTs/OTs can assist in recommending appropriate devices to improve joint stability. Walker or wheelchair may be necessary for mobility.
Ocular refraction abnormality	Standard treatment(s) as recommended by ophthalmologist
Hearing impairment	Standard treatment; may incl use of hearing aid	See Hereditary Hearing Loss and Deafness Overview.
Aortic dilatation / Vascular dissection	Eventually, use of beta-blockers in patients w/aortic dilatation to prevent further expansion	Use of beta-blockers (e.g., celiprolol) may be considered based on their efficiency in vascular EDS. ¹ Vascular surgery is extremely risky because of vascular fragility in EDS.
Cleft palate	Standard treatment

Manifestation/
Concern

Treatment

Considerations/Other

Severe scoliosis

Standard treatment, ideally in multidisciplinary setting

Surgery may be indicated for severe scoliosis.
At surgery caution should be taken due to risk for vascular complications, atlantoaxial instability, & primary muscle disease.

Clubbed foot/
Foot deformity

Standard treatment, ideally in multidisciplinary setting

Orthopedic shoe insoles may be beneficial for those w/foot deformity & joint instability

Osteopenia/
Osteoporosis

Standard treatment

Age-dependent muscle decline

PT program

Orthopedists, rehab medicine, & PTs/OTs can assist in recommending appropriate devices to improve joint stability.
Walker or wheelchair may be necessary for mobility.

Ocular refraction abnormality

Standard treatment(s) as recommended by ophthalmologist

Hearing impairment

Standard treatment; may incl use of hearing aid

See Hereditary Hearing Loss and Deafness Overview.

Aortic dilatation /
Vascular dissection

Eventually, use of beta-blockers in patients w/aortic dilatation to prevent further expansion

Use of beta-blockers (e.g., celiprolol) may be considered based on their efficiency in vascular EDS. ¹
Vascular surgery is extremely risky because of vascular fragility in EDS.

Cleft palate

Standard treatment

From: FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

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

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