MeSH Browser

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 Number: 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 MeSH Supplementary Concept Data 2024