HES7 and Spina bifida occulta: <h4>Background</h4>Spondylocostal dysostosis 4 (SCDO4) is characterized by short stature (mainly short trunk), dyspnea, brain meningocele, and spina bifida occulta, which is caused by homozygous or compound heterozygous <i>HES7</i> (HES family bHLH transcription factor 7) variants.