Dyggve Melchior Clausen Disease- A Rare Case Report

Introduction: Dyggve-Melchior-Clausen syndrome (DMC) is a rare, autosomal recessive spondyloepimetaphyseal dysplasia marked by short stature, microcephaly, intellectual disability, and coarse facial features. A 4 years old female child born to a 2nd degree consanguinous married couple Case Report: was brought to RLJH with complaints of delayed developmental milestones and not gaining adequate height for age. Early Conclusion: diagnosis through clinical suspicion and genetic conrmation can improve long-term functional outcomes and guide genetic counseling