Catalog

Brachyolmia type 1, Hobaek type

No MMS code

Link to WHO Definition

Brachyolmia type 1, Hobaek type – http://id.who.int/icd/entity/1213374086

Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia, a group of rare genetic skeletal disorders, and is characterised by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities.