Crouzon

Crouzon syndrome, also known as craniosynostosis, is a genetic disorder characterized by the premature fusion of cranial sutures, most often the coronal sutures, which restricts skull growth and produces distinctive facial features. This craniosynostosis leads to a rounded skull shape (brachycephaly), shallow eye sockets with protruding eyes (proptosis), hypertelorism, and midface hypoplasia. The result is a beaked nasal bridge, retruded midface, dental crowding, and sometimes breathing problems.

Most cases are autosomal dominant due to FGFR2 mutations; de novo mutations are common. The condition shows variable expressivity, so severity ranges from mild to severe. In rare instances, FGFR3 mutations have been implicated. Intellectual development is usually normal, but associated problems such as sleep-disordered breathing, vision issues from proptosis, or hearing loss due to middle ear problems can occur.

Diagnosis relies on clinical examination and imaging, particularly CT, to assess suture status and orbital anatomy; genetic testing confirms FGFR2 or related mutations and helps with family counseling.

Management requires a multidisciplinary team, including neurosurgery, craniofacial surgery, ophthalmology, otolaryngology, orthodontics, and speech therapy. Surgical options may include cranial vault remodeling to relieve intracranial pressure, orbital decompression to reduce proptosis, and midface advancement (Le Fort II/III) with distraction to correct midface deficiency. Orthodontic treatment, airway management, and regular vision and hearing assessments are common components of care. Prognosis for intelligence is generally favorable, though functional outcomes depend on the severity and associated complications.

Prevalence is about 1 in 60,000 births. The syndrome is named after French physician Octave Crouzon, who first described it in 1912.