Anauxetic dysplasia




A rare disorder characterized by abnormal skeletal and spinal development.


  • Disproportionate short stature
  • Characteristic facial appearance
  • Close set eyes
  • Protruding jaw
  • Missing teeth
  • Short trunk
  • Hyperlordosis
  • Kyphoscoliosis
  • Short limbs
  • Short hands
  • Short feet
  • Prominent large joints
  • Limited elbow extension
  • Rocker-bottom feet
  • Prominent heels
  • Mild mental retardation
  • Underdeveloped midface
  • Steep skull base
  • Oval-shaped vertebrae
  • Delicate pubic bones
  • Hip structure anomaly
  • Short broad digits
  • Irregular wide metaphyses
  • Small epiphyses
  • Delayed wrist bone calcification
  • Flattened vertebrae


Anauxetic dysplasia is caused by different RMRP mutations than those that cause cartilage-hair hypoplasia and metaphyseal dysplasia without hypotrichosis. People with anauxetic dysplasia have extreme short stature and severe skeletal abnormalities. This condition generally does not affect the immune system or the hair, but mild mental retardation has been reported.


  • NIH