Which are the symptoms of Myhre Syndrome?

Myhre Syndrome is a rare genetic disorder that affects various systems of the body. It is characterized by distinct facial features, skeletal abnormalities, and developmental delays. Although the exact prevalence of this syndrome is unknown, it is considered extremely rare.

Symptoms of Myhre Syndrome:

Distinct Facial Features:

Individuals with Myhre Syndrome often have unique facial characteristics that can be recognized early in life. These features may include a broad forehead, a flattened nasal bridge, widely spaced eyes (hypertelorism), a small mouth, a thin upper lip, and a short philtrum (the groove between the nose and upper lip).

Skeletal Abnormalities:

One of the hallmark features of Myhre Syndrome is the presence of skeletal abnormalities. These can include joint stiffness, limited range of motion, and contractures (permanent shortening of muscles or tendons). Additionally, affected individuals may have thickened bones, particularly in the skull, spine, and long bones of the arms and legs. These skeletal abnormalities can lead to growth delays and short stature.

Developmental Delays:

Children with Myhre Syndrome often experience developmental delays, including delayed speech and language skills, motor skill delays, and cognitive impairments. These delays can vary in severity from person to person.

Cardiac Abnormalities:

Some individuals with Myhre Syndrome may have heart defects or structural abnormalities of the heart. These can include thickening of the heart muscle (hypertrophic cardiomyopathy), narrowing of the heart valves, or other congenital heart defects.

Hearing Loss:

Hearing impairment is another common symptom of Myhre Syndrome. It can range from mild to severe and may require the use of hearing aids or other interventions.

Other Features:

Additional features that have been reported in individuals with Myhre Syndrome include short fingers and toes, thickened skin, joint abnormalities, and gastrointestinal issues such as constipation or feeding difficulties.

It is important to note that the symptoms and severity of Myhre Syndrome can vary widely among affected individuals. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more significant challenges.

Diagnosis of Myhre Syndrome is typically based on clinical evaluation, medical history, and genetic testing. Genetic counseling is recommended for individuals and families affected by this syndrome.

While there is currently no cure for Myhre Syndrome, management of the condition focuses on addressing individual symptoms and providing supportive care. This may involve a multidisciplinary approach, including regular medical evaluations, physical therapy, speech therapy, and educational support.

It is important for individuals with Myhre Syndrome to receive ongoing medical care and support to optimize their quality of life and overall well-being.