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Achondroplasia

Achondroplasia · Achondroplazie

What it is

A gain-of-function mutation in FGFR3 slows the growth plates; the commonest form of disproportionate short stature, about 1 in 25,000 births, 80% new mutations. Intelligence is normal.

Symptoms & signs

  • Short upper arms and thighs
  • large head with prominent forehead
  • trident-shaped hands
  • bowed legs and swayback
  • narrow foramen magnum — breathing pauses and sudden death risk in infancy
  • ear infections and sleep apnoea
  • spinal stenosis in adults

🚩 Get help if…

  • call 112 / 911 now Pauses in breathing or blue spells in sleep
  • call 112 / 911 now Floppy baby with weakness or trouble swallowing
  • see a doctor soon Head growing fast or a bulging soft spot
  • see a doctor soon Leg weakness, numbness or leg pain on walking

Where it strikes

Medical treatment

  • Achondroplasia growth charts; sleep study and MRI of the foramen magnum in infancy
  • decompression of the foramen magnum when the cord is compressed
  • ear tubes, adenoid and tonsil removal
  • spinal decompression for stenosis
  • limb lengthening — long, painful and contested
  • Vosoritide daily injection — about 1.6 cm a year more growth than placebo; effects on adult height, proportions and complications not yet known; EU- and FDA-approved 2021 mixed evidence

Natural & lifestyle

  • Healthy weight — obesity worsens joints and spine
  • support the baby's head and back; avoid unsupported sitting early
  • hearing and speech checks

Emerging & experimental

  • Infigratinib (oral FGFR blocker) — phase 3
  • navepegritide (weekly CNP) — trials

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Growth hormone — small short-term gain, little in adult height; licensed only in Japan mixed evidence
  • 'Height-increase' supplements and stretching — cannot change the growth plates anecdotal / traditional

ICD codes