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). [ https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/ ]
Synonyms: spondylocostal dysplasia Spondylocostal Dysplasia spondylocostal dysostosis costovertebral dysplasia
Term information
- OMIMPS:277300 (https://orcid.org/0000-0002-6601-2165)
- MESH:C537565 (MONDO:equivalentTo)
- UMLS:C0265343 (MONDO:equivalentTo)
- NORD:1308 (MONDO:NORD)
- DOID:0050568 (MONDO:equivalentTo)
- GARD:12174 (MONDO:GARD)
- NCIT:C125598 (MONDO:equivalentTo)
- MEDGEN:82707 (MONDO:equivalentTo)
gard_rare, otar, rare, nord_rare
Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations.
http://linkedlifedata.com/resource/umls/id/C0265343
https://omim.org/phenotypicSeries/PS277300
http://purl.obolibrary.org/obo/DOID_0050568
http://identifiers.org/mesh/C537565
http://purl.obolibrary.org/obo/NCIT_C125598
http://identifiers.org/medgen/82707