RabsonMendenhallsyndrom

Rabson-Mendenhall syndrome is a rare genetic disorder characterized by the absence of the lower jaw and the upper part of the neck, along with other facial abnormalities. It is caused by mutations in the EYA4 gene, which is involved in the development of the face and skull. The syndrome is named after the doctors who first described it, Dr. John Rabson and Dr. Robert Mendenhall.

The syndrome typically presents in infancy or early childhood, with the most prominent features being the absence of the mandible and the upper part of the neck. Other facial abnormalities may include a small nose, a small mouth, and a high palate. The syndrome can also affect other parts of the body, such as the ears, eyes, and heart.

The diagnosis of Rabson-Mendenhall syndrome is typically made through genetic testing, which can identify mutations in the EYA4 gene. There is currently no cure for the syndrome, and treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may include surgical procedures to correct facial abnormalities, speech therapy, and other supportive measures.

The prognosis for individuals with Rabson-Mendenhall syndrome varies, depending on the severity of the symptoms and the effectiveness of the treatment. Some individuals may require lifelong support and care, while others may have a more favorable outcome. Research into the syndrome is ongoing, with the goal of developing new treatments and improving the quality of life for affected individuals.