Catalog

Spondyloepiphyseal dysplasia, Byers type

No MMS code

Link to WHO Definition

Spondyloepiphyseal dysplasia, Byers type – http://id.who.int/icd/entity/1922586680

Spondyloepiphyseal dysplasia, Byers type is a type of spondyloepiphyseal dysplasia described in several members of a single family and characterised by short-trunked short stature, punctate corneal dystrophy and disorganisation of dermal collagen fibrils on transmission electron microscopy examination. Since the original report of this family in the 1970s, no new cases have been reported.