spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)

Genetics

• associated with defects in CHST3

Clinical manifestations

• dislocation of the knees &/or hips at birth
• clubfoot
• elbow joint dysplasia with subluxation & limited extension
• short stature
• progressive kyphosis developing in late childhood
• usually evident at birth
• during childhood, the dislocations improve, both spontaneously & with surgical treatment, & features of spondyloepiphyseal dysplasia become apparent, leading to
  • arthritis of the hips & spine with
  • intervertebral disk degeneration
  • rigid kyphoscoliosis
  • trunk shortening by late childhood

More general terms

• spondyloepiphyseal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/143095