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Genetic and Rare Diseases Information Center (GARD)

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Campomelic dysplasia

Other Names for this Disease
  • CMD1
  • CMPD
  • CMPD1
  • CMPD1/SRA1
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Your Questions Answered

1 question(s) from the public on this disease have been answered. Submit a new question.
  • I carry a mutation in the SOX9 gene but I do not have any signs or symptoms of campomelic dysplasia. I have had several pregnancies; one resulted in a child with the condition who later passed away, two resulted in pregnancy termination because the fetuses were found to have the condition, and 2 resulted in miscarriages. I was told that the risk for each of my pregnancies to be affected with this condition was 50%. If this is the case, why does it seem like all of my pregnancies have been affected? Click here for answer