spondylocostal dysostosis type 3

Introduction

heterogeneous group of disorders

Genetics

• type 2 autosomal recessive, associated with defects in LFNG

Clinical manifestations

• variable severity
• vertebral & rib segmentation defects
• skeletal malformations include
  • fusion of vertebrae
  • hemivertebrae
  • fusion of certain ribs
  • other rib malformations
• deformity of the chest & spine (severe scoliosis, kyphoscoliosis & lordosis) is a natural consequence of the malformation & leads to a dwarf-like appearance
• since the thorax is small, infants frequently have respiratory insufficiency & repeated respiratory infections resulting in life-threatening complications in the first year of life

More general terms

• spondylocostal dysostosis

Database

• OMIM: https://mirror.omim.org/entry/609813