/autosomal recessive spondylocostal dysostosis

autosomal recessive spondylocostal dysostosis

Rare Disease

MONDO:0010180

Also Known As

Jarcho-Levin syndromespondylocostal dysostosis, autosomal recessiveSCDO1costovertebral dysplasiaspondylocostal dysostosis 1, autosomal recessive

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.