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Diastrophic dysplasia

Diastrophic dysplasia (DTD) is a rare growth disorder in which patients are usually short, have club feet, and have malformed joints. Although found in all populations, it is particularly prevalent in Finland.


  • Scoliosis, a form of clubbed foot bilaterally
  • Malformed pinnae with calcification of the cartilage
  • Premature calcification of the costal cartilages
  • 'Hitchhiker' thumb due to deformity of the first metacarpal.
  • Cleft palate (in some cases)


DTD is caused by mutation of the SLC26A2 gene located on chromosome 5. This gene encodes a sulfate transporter. This is consistent with the observation of unusual concentrations of sulfate in various tissues of DTD patients. Sulfate is important for skeletal joints because cartilage - the shock-absorber of joints - requires sulfur during its manufacture. Adding sulfur increases the negative charge within cartilage, which contributes to its shock-absorbing properties.

DTD is inherited in an autosomal recessive pattern.


Currently there is no cure for the disease. A great deal of further research must be done before this condition is fully understood and effective therapies are developed.


Genes and Diseases, National Library of Medicine, USA

Online Mendelian Inheritance in Man