Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with FKBP14-kEDS

  • Clinical & radiologic documentation of kyphoscoliosis & measurement of curvature
  • Eval for joint contractures & other skeletal features 1
Referral to orthopedist
PT evalTo develop a specific program to be followed by patient
DXA scanIn those w/frequent fractures or ↓ ambulation
Eyes Ophthalmologic evalTo evaluate for refractive errors
Ears Audiology evalA repeat hearing eval is recommended even if patient had normal newborn hearing screen.
Cardiovascular Echocardiography
  • To incl measurement of aortic root size & assessment of heart valves
  • Cardiac & abdominal ultrasound/MRI may also be considered to monitor for aortic dilatation.
Measurement of blood pressureMaintenance of blood pressure in normal range for age recommended to ↓ risk of arterial rupture
Craniofacial Assessment of palate for submucous or frank cleftReferral to craniofacial clinic if palatal anomalies are suspected
Developmental assessmentTo incl motor, speech-language eval, general cognitive, & vocational skills
Consultation w/clinical geneticist &/or genetic counselor

DXA = dual-energy x-ray absorptiometry; PT = physical therapy


Care providers should be made aware of the possibility of atlantoaxial instability; however, proactive assessment for this finding is not typically done.

From: FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

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