Crouzon disease, also known as Crouzon syndrome, is a rare genetic disorder that affects the skull, face, and sometimes other parts of the body. It is named after the French physician Octave Crouzon, who first described the condition in 1912. Crouzon disease falls under the category of craniosynostosis syndromes, which are characterized by the premature fusion of bones in the skull during fetal development.
Individuals with Crouzon disease typically have a distinct facial appearance, including a high, prominent forehead; wide-set, bulging eyes; a protruding upper jaw; a beaked nose; and a small lower jaw. The premature fusion of cranial sutures can also cause abnormalities in the shape of the skull, typically resulting in a shortened, flattened back of the head. Additionally, individuals with Crouzon disease may experience dental complications, such as crowded teeth or a malocclusion, and may have hearing loss due to abnormalities in the middle ear.
Crouzon disease is caused by mutations in the FGFR2 gene, which is involved in the regulation of cell division and differentiation during development. The inheritance pattern is autosomal dominant, which means that a child only needs to inherit one copy of the mutated gene from one affected parent in order to develop the disorder. However, most cases of Crouzon disease occur sporadically, meaning they are not inherited from a parent.
Treatment for Crouzon disease may involve a multidisciplinary approach, with the involvement of craniofacial surgeons, plastic surgeons, orthodontists, and other specialists. Surgery is often necessary to correct the cranial and facial abnormalities and improve the individual's overall appearance and function. Regular monitoring is also important to address potential complications or ongoing issues associated with
