A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report

Dyggve-Melchior-Clausen (DMC) disease, also known as DMC syndrome, is a rare, progressive genetic disorder that is characterized by skeletal and intellectual abnormalities. The case report involves a four-year-old male child presenting with marked short stature, intellectual disability, coarse facies, and microcephaly. Initial investigations, including blood tests and radiological evaluations, prompted further genetic testing via whole-exome sequencing. This identified a homozygous mutation in the Dymeclin (<i>DYM</i>) gene, implicating DMC disease. The condition usually poses diagnostic challenges due to overlapping clinical features with Morquio syndrome. This case highlights the importance of a comprehensive diagnostic approach and genetic testing in elucidating the underlying genetic etiology of complex presentations in pediatric patients.