Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with FKBP14-kEDS]. - GeneReviews®

System/Concern	Evaluation	Comment
Musculoskeletal	Clinical & radiologic documentation of kyphoscoliosis & measurement of curvature Eval for joint contractures & other skeletal features ¹	Referral to orthopedist
PT eval	To develop a specific program to be followed by patient
DXA scan	In those w/frequent fractures or ↓ ambulation
Eyes	Ophthalmologic eval	To evaluate for refractive errors
Ears	Audiology eval	A 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 pressure	Maintenance of blood pressure in normal range for age recommended to ↓ risk of arterial rupture
Craniofacial	Assessment of palate for submucous or frank cleft	Referral to craniofacial clinic if palatal anomalies are suspected
Miscellaneous/ Other	Developmental assessment	To incl motor, speech-language eval, general cognitive, & vocational skills
Consultation w/clinical geneticist &/or genetic counselor

System/Concern

Evaluation

Comment

Musculoskeletal

Clinical & radiologic documentation of kyphoscoliosis & measurement of curvature
Eval for joint contractures & other skeletal features ¹

Referral to orthopedist

PT eval

To develop a specific program to be followed by patient

DXA scan

In those w/frequent fractures or ↓ ambulation

Eyes

Ophthalmologic eval

To evaluate for refractive errors

Ears

Audiology eval

A 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 pressure

Maintenance of blood pressure in normal range for age recommended to ↓ risk of arterial rupture

Craniofacial

Assessment of palate for submucous or frank cleft

Referral to craniofacial clinic if palatal anomalies are suspected

Miscellaneous/
Other

Developmental assessment

To incl motor, speech-language eval, general cognitive, & vocational skills

Consultation w/clinical geneticist &/or genetic counselor

From: FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

GeneReviews^® [Internet].

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

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