Campomelic dysplasia

Campomelic dysplasia

Infobox_Disease
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DiseasesDB = 33419
ICD10 =
ICD9 =
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OMIM = 114290
MedlinePlus =
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Camptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer to the bowing of the femur and tibia, ("campto" meaning bent and "melia" refers to the limbs) commonly seen in this disorder.

A mutation in the gene coding for the transcription factor Sox9, localized to chromosome 17, results in camptomelic dysplasia, which is marked by anomalies of the ribs and vertebral column and bowing of the long bones. Sox9 controls transcription of Type II collagen and the proteoglycan aggrecan, and is also related to XX male sex reversal.

References

* [http://www.nemours.org/internet?url=no/dysplasia/campomelic.html Camptomelic dysplasia on www.nemours.org]


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