Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Hypochondroplasia]. - GeneReviews®

System/Concern	Evaluation	Comment
Growth	Measurement of height, weight, & head circumference	Plot growth parameters on achondroplasia-standardized growth curves.
Musculoskeletal	Clinical assessment for truncal weakness or evidence of thoracolumbar kyphosis	Lateral spine films to evaluate for thoracolumbar kyphosis if indicated
Clinical assessment for genu varum	Referral to orthopedist if bowing interferes w/walking
Narrow craniocervical junction	Assess for signs/symptoms of sleep apnea; refer for polysomnography if needed. Neurologic exam for signs of spinal cord compression (e.g., severe hypotonia, hyperreflexia, clonus, & asymmetries)	MRI or CT of the foramen magnum if spinal cord compression suggested by findings on neurologic exam or central apnea identified on sleep study Referral to a pediatric neurologist or neurosurgeon if needed
Neurology	Clinical assessment for symptoms suggestive of epilepsy	Referral to pediatric neurologist when indicated
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Spinal cord stenosis	In newly diagnosed adults: neurologic exam for signs of spinal cord stenosis (intermittent, reversible, exercise-induced claudication to severe, irreversible abnormalities of leg function & continence)	If severe signs &/or symptoms of spinal stenosis arise, urgent surgical referral is appropriate.
Other	Consultation w/clinical geneticist &/or genetic counselor	To incl genetic counseling

System/Concern

Evaluation

Comment

Growth

Measurement of height, weight, & head circumference

Plot growth parameters on achondroplasia-standardized growth curves.

Musculoskeletal

Clinical assessment for truncal weakness or evidence of thoracolumbar kyphosis

Lateral spine films to evaluate for thoracolumbar kyphosis if indicated

Clinical assessment for genu varum

Referral to orthopedist if bowing interferes w/walking

Narrow
craniocervical
junction

Assess for signs/symptoms of sleep apnea; refer for polysomnography if needed.
Neurologic exam for signs of spinal cord compression (e.g., severe hypotonia, hyperreflexia, clonus, & asymmetries)

MRI or CT of the foramen magnum if spinal cord compression suggested by findings on neurologic exam or central apnea identified on sleep study
Referral to a pediatric neurologist or neurosurgeon if needed

Neurology

Clinical assessment for symptoms suggestive of epilepsy

Referral to pediatric neurologist when indicated

Development

Developmental assessment

To incl motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Spinal cord
stenosis

In newly diagnosed adults: neurologic exam for signs of spinal cord stenosis (intermittent, reversible, exercise-induced claudication to severe, irreversible abnormalities of leg function & continence)

If severe signs &/or symptoms of spinal stenosis arise, urgent surgical referral is appropriate.

Other

Consultation w/clinical geneticist &/or genetic counselor

To incl genetic counseling

From: Hypochondroplasia

GeneReviews^® [Internet].

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

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