Autosomal recessive brachyolmia

What is Autosomal recessive brachyolmia

Autosomal recessive brachyolmia is a rare genetic disorder

This condition is a skeletal disorder.

Synonyms

Brachyolmia, Hobaek/Toledo type

Symptoms

  1. Stunted growth
  2. Short trunk
  3. Patyspondyly
  4. Longitudinal striations in the femoral neck 
  5. Peripheral punctuate corneal opacities
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