Spondylocostal Dysostosis 5 (SCDO5)

Alias:

Spondylothoracic Dysostosis

Scdo5

Scoliosis, Congenital, with or Without Rib Anomalies

Costovertebral Segmentation Anomalies

Spondylocostal Dysplasia

Jarcho-Levin Syndrome

Tacs

Dysostosis, Spondylocostal, Autosomal Recessive, Type 5

Spondylocostal Dysostosis 4, Autosomal Dominant

Autosomal Dominant Spondylocostal Dysostosis

Autosomal Dominant Spondylocostal Dysplasia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondylocostal Dysostosis 5, also known as spondylothoracic dysostosis, is related to spondylocostal dysostosis 3, autosomal recessive and spondylocostal dysostosis, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 5 is TBX6 (T-Box Transcription Factor 6), and among its related pathways/superpathways are Gastrulation and 16p11.2 proximal deletion syndrome. The drugs Triamcinolone and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are scoliosis and intrauterine growth retardation

Related ID：

MALACARDS：SPN330

OMIM：122600

MESH：D004413