Dyggve Melchior Clausen Syndrome (DMC) is a rare genetic disorder that primarily affects skeletal development. It is characterized by progressive skeletal abnormalities, intellectual disability, and distinct facial features. DMC is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
The main features of DMC include:
DMC is typically diagnosed through clinical evaluation, genetic testing, and imaging studies. Treatment focuses on managing the symptoms and may involve a multidisciplinary approach, including orthopedic interventions, physical therapy, and educational support.