spondyloepiphyseal dysplasia congenital type (SEMD-STR)

Pathology

• bone disease

Genetics

• associated with defects in COL2A1

Clinical manifestations

• disproportionate short stature from birth
• very short trunk & shortened limbs
• skeletal abnormalities including:
  • lordosis
  • scoliosis
  • flattened vertebrae
  • pectus carinatum
  • coxa vara
  • clubfoot
  • abnormal epiphyses or metaphyses

Radiology

• radiographs show irregular sclerotic changes, described as dappled in the metaphyses of the long bones

More general terms

• spondyloepiphyseal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/184250