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spondylocostal dysostosis type 1
Genetics:
- autosomal recessive
- associated with defects in DLL3 are the cause of spondylocostal dysostosis type 1
Clinical manifestations:
- variable severity
- vertebral & rib segmentation defects
- main skeletal malformations include
a) fusion of vertebrae
b) hemivertebrae
c) fusion of certain ribs
d) 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
- the thorax is small
Complications:
- 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 277300
References
- UniProt :accession Q9NYJ7
- OMIM :accession 277300