Franceschetti Syndrome

Franceschetti Syndrome, also known as Mandibulofacial Dysostosis, is a rare genetic disorder affecting facial development. It results in features such as a small jaw (micrognathia), downward-slanting eyes, underdeveloped cheekbones, and hearing loss. The condition can also involve speech difficulties and issues with the jaw and palate. It occurs due to mutations in specific genes and is usually inherited in an autosomal dominant manner. While it can present with noticeable facial differences, individuals often have normal intelligence and can benefit from medical interventions like surgeries, hearing aids, and speech therapy to improve function and appearance.