Diastrophic dysplasia

Definition:

Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. DTD is especially prevalent in Finland.

References:

[1]. J Hästbacka, et al. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet. 1999 Sep;7(6):664-70. [Content Brief]

[2]. O Mäkitie, et al. SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED). Clin Genet. 2015 Mar;87(3):273-8. [Content Brief]

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