 | This article needs additional citations for verification. (July 2020) |
| 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.