Myhre Syndrome is a rare genetic disorder that affects various systems in the body. It is characterized by distinct facial features, skeletal abnormalities, and developmental delays.
Facial features: Individuals with Myhre Syndrome often have a round face, a broad forehead, a small chin, and a wide nasal bridge. They may also have widely spaced eyes and thick eyebrows.
Skeletal abnormalities: People with Myhre Syndrome may have joint stiffness, limited range of motion, and short stature. They may also have thickened bones, particularly in the skull, spine, and fingers.
Developmental delays: Children with Myhre Syndrome may experience delays in reaching developmental milestones such as walking and talking. They may also have intellectual disabilities and learning difficulties.
Other features of Myhre Syndrome can include heart defects, hearing loss, and respiratory problems. The severity of symptoms can vary among individuals.
Myhre Syndrome is caused by mutations in the SMAD4 gene, which plays a role in regulating cell growth and development. It is typically diagnosed through genetic testing.
Treatment for Myhre Syndrome focuses on managing the symptoms and may involve a multidisciplinary approach with specialists in various fields.