Myhre syndrome

Myhre Syndrome is a rare genetic disorder characterized by distinctive facial features, hearing loss, and musculoskeletal abnormalities. It is caused by mutations in the SMAD4 gene and is inherited in an autosomal dominant manner.

Symptoms and Signs

Patients with Myhre Syndrome typically present with a variety of symptoms, including:

• Facial dysmorphism: Distinctive facial features such as a square-shaped face, deep-set eyes, and a small mouth.
• Hearing loss: Progressive sensorineural hearing loss is common.
• Musculoskeletal abnormalities: These include limited joint mobility, thick skin, and muscle hypertrophy.
• Cardiovascular disease: Many patients develop cardiovascular problems, including hypertension and pulmonary stenosis.
• Intellectual disability: Some patients may have mild to moderate intellectual disability.

Diagnosis

The diagnosis of Myhre Syndrome is based on clinical features and confirmed by genetic testing showing a mutation in the SMAD4 gene.

Treatment

There is no cure for Myhre Syndrome. Treatment is symptomatic and supportive, and may include physical therapy for joint stiffness, hearing aids for hearing loss, and regular monitoring for cardiovascular disease.

Prognosis

The prognosis for individuals with Myhre Syndrome varies. Some individuals may have a normal lifespan, while others may have life-threatening complications due to cardiovascular disease.

See Also

• List of genetic disorders
• SMAD4
• Autosomal dominant

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References

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External Links

• NIH Rare Diseases
• Orphanet