Autosomal recessive spondylocostal dysostosis
Autosomal recessive spondylocostal dysostosis
Definition
Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized 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.
Also known as Jarcho-Levin syndrome, spondylocostal dysostosis, autosomal recessive — per MONDO