Achondroplasia Characteristics

  • Average height in men: 131 cm (4', 3.6')
  • Average height in women: 124 cm (4', .8')

  • Intelligence is usually typical unless hydrocephalus or other central nervous system complication is present.

  • In adults this can:
    • Contribute to morbidity associated with lumbar stenosis
    • Contribute to joint problems
    • Lead to possible cardiovascular complications 

  • Lumbar lordosis where the spine curves inward at the lower back
  • Kyphosis characterized by an abnormally rounded upper back

  • Limitation of elbow extension and rotation
  • Excessive mobility of the knees, hips, and most other joints

Other Findings:

  • Most common adult medical complaint is symptomatic spinal stenosis involving L1-L4
    • Symptoms range from intermittent, reversible, exercise-induced limping to severe irreversible abnormalities of leg function.
    • Spinal stenosis- may manifest in older individuals with numbness, weakness, and altered deep tendon reflexes
  • Sleep apnea
  • Middle ear dysfunction
    • If inadequately treated this can lead to hearing loss that may interfere with language development
  • Bowing of legs
  • Characteristic facial features