Achondroplasia OMIM# 100800

Facial Gestalt

Visualization generated by Face2Gene.


Associated Gene


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Key Features

  • rhizomelia
  • frontal bossing
  • midface retrusion
  • trident hand
  • disproportionate short stature
  • macrocephaly

London Medical Databases (LMD):
Achondroplasia OMIM# 100800


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