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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Features are variable, but may include:

  • recognition at two or three years old with the development of rhizomelic short stature
  • normal head size
  • normal nasal bridge and mandible - distinct from achondroplasia
  • short hands and feet; stocky and muscular build

Other possible features, which are always present and severe in achondroplasia, include:

  • prominent lumbar lordosis
  • pelvic tilt
  • mild limitation of movement of extension at the elbows

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