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Medical condition
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]
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.
Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility.
^"Diastrophic dysplasia: MedlinePlus Genetics".
^Hästbacka J, Sistonen P, Kaitila I, Weiffenbach B, Kidd KK, De La Chapelle A (December 1991). "A linkage map spanning the locus for diastrophic dysplasia (DTD)". Genomics. 11 (4): 968–973. doi:10.1016/0888-7543(91)90021-6. PMID 1783404.
^"diastrophic - Definition from the Merriam-Webster Online Dictionary". Retrieved 2009-03-12.
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