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Spondylocostal dysostosis

MONDO:0000359

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).

Also known as: Spondylocostal Dysplasia, costovertebral dysplasia, spondylocostal dysostosis, spondylocostal dysplasia, Jarcho-Levin syndrome, SCD, SCDO

25 clinical trials for this condition and its sub-types, 5 tagged with Spondylocostal dysostosis itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18235) ↑ Vertebral column disorder (1243) ↑ Dysostosis (85)

Sub-types of Spondylocostal dysostosis

Spondylocostal dysostosis 5 3 trials
Autosomal dominant spondylocostal dysostosis 0 trials
Autosomal recessive spondylocostal dysostosis 0 trials
5 sub-types
- Spondylocostal dysostosis 1, autosomal recessive 0 trials
- Spondylocostal dysostosis 2, autosomal recessive 0 trials
- Spondylocostal dysostosis 3, autosomal recessive 0 trials
- Spondylocostal dysostosis 4, autosomal recessive 0 trials
- Spondylocostal dysostosis 6, autosomal recessive 0 trials
Spondylocostal dysostosis 7, autosomal recessive 0 trials

Including sub-types (25) Tagged with Spondylocostal dysostosis (5)

Trials to join now! 3 Not yet finished but already full! 1 Completed 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Spondylocostal dysostosis

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth