This condition is inherited in an autosomal recessive fashion. It is due to mutations in the Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) gene which is located on the long arm of chromosome 10 (10q23.2-q23.31).
Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type 1B
Spondyloepiphyseal dysplasia congenita
Achondrogenesis type 2
Metaphyseal chondrodysplasia Schmid type
Platyspondylic lethal skeletal dysplasia, Torrance type
Chondrodysplasia, Grebe type