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Autosomal recessive spondylocostal dysostosis

MONDO:0010180

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, SCDO1, costovertebral dysplasia, spondylocostal dysostosis 1, autosomal recessive

17 clinical trials for this condition and its sub-types.

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Sub-types

Spondylocostal dysostosis 1, autosomal recessive (0) Spondylocostal dysostosis 2, autosomal recessive (0) Spondylocostal dysostosis 3, autosomal recessive (0) Spondylocostal dysostosis 4, autosomal recessive (0) Spondylocostal dysostosis 6, autosomal recessive (0)

Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Hereditary disease (176) Vertebral column disorder (76) Bone disorder (51) Inborn errors of metabolism (45) Human disease (14) Congenital disorder of glycosylation (7) Spondylocostal dysostosis (5)
Trials to join now! 7 Not yet recruiting 1 Not yet finished but already full! 1 Completed 8
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