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Autosomal recessive spondylocostal dysostosis

rare

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.

Identifiers
MONDO:0010180 Orphanet:2311
Part of
Autosomal recessive diseaseDisorder of fucoglycosan synthesisSpondylocostal dysostosis
Also known as
Jarcho-Levin syndrome · SCDO1 · spondylocostal dysostosis 1, autosomal recessive · spondylocostal dysostosis, autosomal recessive

Subtypes

All diseases Rare only
Disease Subtypes
Spondylocostal dysostosis 1, autosomal recessive
Spondylocostal dysostosis 2, autosomal recessive
Spondylocostal dysostosis 3, autosomal recessive
Spondylocostal dysostosis 4, autosomal recessive
Spondylocostal dysostosis 6, autosomal recessive

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