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Jarcho-Levin syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
Jarcho-Levin syndrome
Unique ID
C537565
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537565
Entry Term(s)
Costovertebral dysplasia
SCDO1 Spondylocostal dysostosis 1
Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal dysostosis
Spondylothoracic Dysostosis
Spondylothoracic Dysplasia
Registry Numbers
0
Heading Mapped to
*Abnormalities, Multiple
*Hernia, Diaphragmatic
Frequency
63
Note
A heterogeneous group of autosomal recessive axial skeletal disorders characterized by multiple segmentation defects of the VERTEBRAE (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. Rib abnormalities may cause increased pressure in the THORAX, leading to diaphragmatic hernia. Mutations in the DLL3 gene have been identified. OMIM: 277300
Date of Entry
2010/08/25
Revision Date
2022/11/02
Jarcho-Levin syndrome Preferred
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