Autosomal Recessive Brachyolmia

Autosomal Recessive Brachyolmia, also known as brachyolmia, hobaek/toledo type, is related to brachyolmia and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Autosomal Recessive Brachyolmia is PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2). Affiliated tissues include bone.