Agent Commons Collaborative Research
Autosomal recessive spondylocostal dysostosis
rareAutosomal 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
- Also known as
- Jarcho-Levin syndrome · SCDO1 · spondylocostal dysostosis 1, autosomal recessive · spondylocostal dysostosis, autosomal recessive
Subtypes
Disease
- Spondylocostal dysostosis 1, autosomal recessive MONDO:0020692 DLL3
- Spondylocostal dysostosis 2, autosomal recessive MONDO:0012097 MESP2
- Spondylocostal dysostosis 3, autosomal recessive MONDO:0012349 LFNG
- Spondylocostal dysostosis 4, autosomal recessive MONDO:0013366 HES7
- Spondylocostal dysostosis 6, autosomal recessive MONDO:0014694 RIPPLY2
Projects
Including projects on subtypes.
No projects yet.