spondylocostal dysostosis type 4

spondylocostal dysostosis type 4

A clinically variable autosomal recessive condition (OMIM:613686) characterised by dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations.
 
Molecular pathology
Defects in HES7, a transcription repressor, cause spondylocostal dysostosis type 4.
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