Catalog

Brachyolmia type 1, Toledo type

No MMS code

Link to WHO Definition

Brachyolmia type 1, Toledo type – http://id.who.int/icd/entity/637954533

Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia, a group of rare genetic skeletal disorders, and is characterised by short stature, short trunk, and platyspondyly, as well as corneal opacities.