Catalog

Spondylocostal dysostosis, autosomal recessive

No MMS code

Link to WHO Definition

Spondylocostal dysostosis, autosomal recessive – http://id.who.int/icd/entity/505492480

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.