Preferred Label : Spondylocostal dysostosis, autosomal recessive;
ICD-11 definition : 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.;
Origin ID : 505492480;
Automatic exact mappings (from CISMeF team)
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.
