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Diastrophic dysplasia (DTD)

Genes

  • Solute carrier family 26 member 2 (SLC26A2)

Summary

Diastrophic dysplasia (DTD) is a chondrodysplasia causing severe growth retardation, and structural and functional abnormalities of joints. The basic mechanism is the defective function of a solute carrier family 26 (sulfate transporter), member 2 protein, encoded by the SLC26A2 gene at chromosome 5q21-22, leading to structural changes of proteoglycans in cartilage. Growth retardation and joint abnormalities are already present in utero, and mean height at birth is 32.5 cm. Extremities are short while the trunk is of normal size, upper arms show ulnar deviation with stiff fingers and a ""hitchhiker"" thumb. Hips are stiff and most patients have club foot. A cleft palate is frequent. Growth remains slow, the median adult height for males is 135 cm and 129 cm for females. Changes in the joints often progress with age and corrective surgery becomes necessary. Thoracic kyphoscoliosis may lead to severe complications. Typical clinical findings, supported by X-ray studies, confirm the diagnosis. Ultrasound can detect the disease in utero, but gene tests, where available, offer prenatal diagnosis earlier and with greater accuracy. Mutations in the SLC26A2 gene may cause three other growth disorders, atelosteogenesis II(OMIM# 256050), achondrogenesis IB (OMIM# 600972) or Epiphyseal dysplasia, multiple, 4 (OMIM#226900)..

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UMLS Concept names

Selected publications

  • Am J Hum Genet. 1996 Feb;58(2):255-62. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Hästbacka J1, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES.kk PMID: 8571951 (Pubmed)