Campomelic Dysplasia OMIM# 114290

Facial Gestalt

Visualization generated by Face2Gene.


Associated Gene

• SOX9

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Key Features

  • bowing of the long bones
  • respiratory insufficiency
  • laryngotracheomalacia
  • narrow iliac wings
  • relative macrocephaly

London Medical Databases (LMD):
Campomelic Dysplasia OMIM# 114290


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