autosomal recessive spondylocostal dysostosis
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.
MONDO:0000359
spondylocostal dysostosis
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0017747
disorder of fucoglycosan synthesis
is_a
Jarcho-Levin syndrome
exact
SCDO1
related
spondylocostal dysostosis 1, autosomal recessive
related
spondylocostal dysostosis, autosomal recessive
exact