Spondylocostal dysostosis

rare

Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).

Identifiers: MONDO:0000359
Part of: Dysostosis Hereditary disease Vertebral column disorder
Also known as: costovertebral dysplasia · Jarcho-Levin syndrome · SCD · SCDO · spondylocostal dysplasia

Subtypes

All diseases Rare only

Disease Rare Not rare Subtypes

Autosomal recessive spondylocostal dysostosis MONDO:0010180 5
Autosomal dominant spondylocostal dysostosis MONDO:0015826
Spondylocostal dysostosis 5 MONDO:0007389 TBX6
Spondylocostal dysostosis 7, autosomal recessive MONDO:0981023 DMRT2

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