SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

Abstract

<b><i>Introduction:</i></b> Mendelian disorders of the epigenetic machinery are a growing group of disorders exhibiting several overlapping clinical features that are probably due to common abnormalities at the epigenomic level, which lead to downstream convergence at the transcriptomic level. <b><i>Case presentation:</i></b> Here, we report a new case of short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) syndrome with a severe ocular phenotype and hypogonadism. <b><i>Conclusion:</i></b> Similarities and connections with other mendelian disorders of the epigenetic machinery are highlighted, confirming SBIDDS′ enrolment as a new spoke of the epigenetic machinery wheel.