Spondylocostal dysostosis, autosomal recessive (Q89142)
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Autosomal recessive spondylocostal dysostosis is a rare skeletal disorder of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_505492480 |
||
| English | Spondylocostal dysostosis, autosomal recessive |
Autosomal recessive spondylocostal dysostosis is a rare skeletal disorder of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. |
Statements
CID11:ID_505492480
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