Table 4.

Treatment of Manifestations in Individuals with FKBP14-kEDS

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

OT = occupational therapist; PT = physical therapist/therapy


From: FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

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