3M syndrome is a rare genetic disorder characterized by short stature, distinctive facial features, and skeletal abnormalities. It is named after the three researchers who first described the condition: Miller, McKusick, and Malvaux.
Individuals with 3M syndrome typically have short stature that is evident from birth and persists throughout life. They may also have a characteristic facial appearance, including a prominent forehead, a triangular-shaped face, a small chin, and a beaked nose. Skeletal abnormalities can include short fingers and toes, abnormal curvature of the spine (scoliosis), and joint limitations.
3M syndrome is caused by mutations in certain genes involved in skeletal development and growth regulation. It 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. Diagnosis is based on clinical features and genetic testing.
Treatment for 3M syndrome focuses on managing the symptoms and complications associated with the condition. This may include growth hormone therapy to improve height, orthopedic interventions for skeletal abnormalities, and regular monitoring of overall health and development.