Schmid type metaphyseal chondrodysplasia; includes: spondylometaphyseal dysplasia Japanese type

Pathology

• disorder of the osseous skeleton

Genetics

• autosomal dominant
• associated with defects in COL10A1

Clinical manifestations

• mild short stature
• coxa vara
• waddling gait
• variant form: spondylometaphyseal dysplasia Japanese type with spinal involvement comprising
  • mild platyspondyly
  • vertebral body abnormalities
  • end-plate irregularity

Radiology

• radiograph usually shows
  • sclerosis of the ribs
  • flaring of the metaphyses
  • a wide irregular growth plate, especially of the knees

More general terms

• osteochondrodysplasia

Database

• OMIM: https://mirror.omim.org/entry/156500