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.