Frias Syndrome

1. Causes of the disease

Frias syndrome is a very rare genetic disorder caused by a genetic abnormality, the causative gene and underlying mechanism of which are not yet fully understood. It often occurs as a de novo mutation and affects bone and facial development.

2. Symptoms

• Facial abnormalities : Characteristic facial features include a low-set nose, small chin, and widely spaced eyes.
• Bone abnormalities : Bone dysplasia may be present, particularly affecting the bones of the fingers and hands.
• Growth disorder : Physical growth is often delayed and short stature is characteristic.
• Developmental delay and intellectual disability : Some patients may have developmental delay or intellectual disability.

3. Treatment

• Orthopedic treatment : Surgery and the use of devices may be used to treat bone and joint abnormalities.
• Developmental Support : Developmental support is provided through physical, occupational and speech therapy.
• Treatment for facial abnormalities : Corrective surgery may be considered but requires careful medical evaluation.

4. Prognosis

The prognosis for Frias syndrome depends on the severity of the symptoms, but bone and facial abnormalities can affect daily life. Early treatment and support can improve quality of life.

5. The burden on parents

The need for medical management and daily support can place a heavy financial and psychological burden on patients, so it is important to work with appropriate support organizations and medical teams to establish a support system.