Crouzon syndrome
Crouzon syndrome (pronounced kroo-ZON) is a rare genetic disorder characterized by the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Etymology
The syndrome is named after French neurologist Octave Crouzon, who first described the disorder in 1912.
Definition
Crouzon syndrome is a type of craniosynostosis, a condition in which the sutures (joints) between the bones of the skull close too early, affecting the shape and size of the skull. The syndrome is characterized by distinctive, abnormal facial features and may also affect other parts of the body.
Symptoms
Common symptoms of Crouzon syndrome include wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, some people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate).
Causes
Crouzon syndrome is caused by mutations in the FGFR2 gene. These mutations lead to the production of a protein that is constantly active, which interferes with skeletal development and leads to the premature fusion of the bones in the skull, face, and possibly the hands and feet.
Diagnosis
Diagnosis of Crouzon syndrome can often be made at birth by physical examination. Genetic testing can confirm the diagnosis.
Treatment
Treatment of Crouzon syndrome often involves surgery to correct abnormal bone growth of the skull, face, jaw, and spine. Other treatments, such as speech therapy or dental care, may be necessary for associated conditions.
See also
External links
- Medical encyclopedia article on Crouzon syndrome
- Wikipedia's article - Crouzon syndrome
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