AUTHOR=Umair Muhammad , Younus Muhammad , Shafiq Sarfraz , Nayab Anam , Alfadhel Majid 

TITLE=Clinical genetics of spondylocostal dysostosis: A mini review

JOURNAL=Frontiers in Genetics

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.996364

DOI=10.3389/fgene.2022.996364

ISSN=1664-8021

ABSTRACT=Spondylocostal dysostosis is a genetic defect identified by severe ribs and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing genes for such severe conditions. Identification of novel genes enabled us to understand the developmental biology and molecular and cellular mechanisms involved in the etiology of these rare diseases. Here, we discuss the clinical and molecular targets associated with Spondylocostal dysostosis, including clinical evaluation, genes, and pathways. This review might help us understand the basics of this severe disorder for more proper clinical characterization and might help in therapeutic strategies.