Diastrophic dysplasia

Diastrophic dysplasia
Other namesDTD
SpecialtyMedical genetics
DurationLife-long
CausesMutations in the SLC26A2 gene
FrequencyAround 1 in 500,000 live births

Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development. ("Diastrophism" is a general word referring to a twisting.) Diastrophic dysplasia is due to mutations in the SLC26A2 gene.

Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility.

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