Myhre Syndrome

Our approach to Myhre syndrome

At our Stanford Medicine Children’s Health Cardiovascular Connective Tissue Disorders Program, we believe in providing comprehensive and coordinated care for individuals with Myhre syndrome. Our multidisciplinary team approach ensures that comprehensive care is provided through the collaboration of various specialists. These include a geneticist and a genetic counselor, cardiologists, a pulmonologist, ENTs, psychologists, a psychiatrist, a social worker, and a nurse coordinator. This integrated approach allows us to offer personalized care tailored to each patient’s unique needs, improving their quality of life.

About Myhre syndrome

Myhre syndrome is a very rare genetic disorder that affects connective tissue. It is typically caused by disease-causing variants in the SMAD4 gene, which plays a critical role in cellular signaling. The condition affects multiple systems within the body, including the cardiovascular, respiratory, endocrine, musculoskeletal, and neurological systems. Fibrosis, which causes tissue to thicken, harden, or scar, is a key feature of Myhre syndrome. Myhre syndrome usually manifests during childhood, and its severity can vary among individuals.

Signs of Myhre syndrome

Signs and symptoms of Myhre syndrome can include:

• Cardiovascular issues: Including thickening of the heart walls (cardiomyopathy) and other heart defects.
• Respiratory problems: Such as airway anomalies and a predisposition to respiratory infections.
• Developmental delays: Affecting cognitive, speech, and motor skills.
• Skin abnormalities: Including thickened skin.
• Musculoskeletal abnormalities: Including joint stiffness, broad thumbs and toes, and muscle rigidity.
• Short stature: Growth delays and short stature are common.
• Hearing and vision issues: Such as hearing loss or vision abnormalities.

Learn more by visiting the Myhre Syndrome Foundation