What is Dyggve Melchior Clausen Syndrome

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:

• Skeletal abnormalities: Individuals with DMC may experience abnormal bone growth, particularly in the spine, pelvis, and long bones. This can lead to short stature and joint deformities.


• Intellectual disability: Most individuals with DMC have some degree of intellectual disability, ranging from mild to severe.


• Distinct facial features: Facial characteristics associated with DMC include a prominent forehead, widely spaced eyes, a flat nasal bridge, and a small chin.

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.

by Diseasemaps