<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. Here, HES7 is linked to spondylocostal dysostosis 4, autosomal recessive.