Table 1 Onset of manifestations associated with achondroplasia over the life course [1, 2, 7, 12, 16,17,18,19,20]
From: Real-world evidence in achondroplasia: considerations for a standardized data set
Body system | 0–2 years | 3–12 years | 13–18 years | > 18 years |
|---|---|---|---|---|
Musculoskeletal and central nervous system | Foramen magnum stenosis Cervical medullary compression Kyphosis | (Risk is higher in the earlier years) Foramen magnum stenosis Hydrocephalus Cervical medullary compression | ||
Cervical medullary compression Symptomatic spinal stenosis Lumbar hyperlordosis Kyphosis Hip flexion contractures Limited elbow extension Genu varum Tortional deformity of lower limb segments Early onset arthritis-related pain syndrome | ||||
Hydrocephalus Gross motor delay Muscular hypotonia | Gross motor delay Speech delay Muscular hypotonia (for the first years of life) | Potential wheelchair dependency | ||
Ear, nose, throat | Otitis media Hearing loss | Hearing loss | ||
Cardiorespiratory | Sleep apnoea (obstructive or central) Restrictive pulmonary disease (infancy) Hypertension Heart disease Increased mortality | |||
Dental | Tooth malocclusion | |||
Other | Sudden death | Obesity Chronic pain | ||