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Table 2 Factors that may indicate cord compression that should trigger consideration of referral to a neurosurgery specialist experienced in the management of achondroplasia

From: European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

Type of assessment

Assessment

Neurological

• Hyperreflexia or persistent clonus

• Asymmetric reflexes, early hand preference

• Increased head circumference, beyond achondroplasia-specific growth charts

• Hypotonia

• Irritability

• Developmental delay, beyond achondroplasia-specific developmental charts

Neuroimaging

• Evidence of cord compression on MRI

Respiratory

• Evidence from polysomnography of central apnoea