Diastrophic Dysplasia is a rare autosomal recessive chondrodysplasia, characterized by rhizomelic short limbs, rigid clubfeet, dislocation of the major joints, and progressive scoliosis.
The condiiton is caused by mutation in the SLC26A2 gene
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
5q32
Diastrophic Dysplasia is a rare autosomal recessive chondrodysplasia, characterized by rhizomelic short limbs, rigid clubfeet, dislocation of the major joints, and progressive scoliosis.
The condiiton is caused by mutation in the SLC26A2 gene