Diastrophic dysplasia
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Diastrophic dysplasia is an autosomal recessive[2] dysplasia which affects cartilage and bone development. ("Diastrophism" is a general word referring to a twisting.)[3] Diastrophic dysplasia is due to mutations in the SLC26A2 gene.
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Quick Facts Other names, Specialty ...
Diastrophic dysplasia | |
---|---|
Other names | DTD |
Specialty | Medical genetics |
Duration | Life-long |
Causes | Mutations in the SLC26A2 gene |
Frequency | Around 1 in 500,000 live births [1] |
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Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility.