spondylocostal dysostosis 1—autosomal recessive
Definition An autosomal recessive condition (OMIM:277300) of variable severity, characterised by skeletal malformations in the form of:
• Vertebral defects–e.g., fusion of vertebrae and hemivertebrae
• Rib segmentation defects–e.g., fusion of ribs, and other rib malformations
• Chest and spine deformities–e.g., severe scoliosis, kyphoscoliosis, and lordosis, are a natural consequence of the disorder and leads to a dwarf-like appearance.
As the thorax is small, infants often have respiratory insufficiency and repeated lung infections with life-threatening complications in the first year of life.
Molecular pathology Defects of DLL3 cause spondylocostal dysostosis 1—autosomal recessive.