Search
spondylocostal dysostosis type 3
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
General
spondylocostal dysostosis
Database Correlations
OMIM 609813
References
- UniProt :accession Q8NES3
- OMIM :accession 609813