Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis, hypoplasia of the upper jaw, small orbits with proptosis, doubling of the uvula and cleft palate. Intracranial disorders such as abnormal venous drainage and hydrocephalus are common. Hydrocephalus in Crouzon syndrome progresses to a greater extent than in Apert syndrome. Other manifestations are calcification of the hyoid ligament in 50% of patients, abnormalities of the cervical spine, deformities of the hands. Some patients have hoan atresia, difficulty breathing through the nose. Most patients have deafness due to a developmental disorder of the inner ear, and often also Meniere's disease.
Treacher-Collins syndrome is an autosomal dominant disorder with a frequency of 1 in 50,000 births. 40% of patients with this disease have a family history, 60% of cases occur sporadically. It is characterized by anomalies of the eyelids (coloboma, absence of eyelashes), small or absent zygomatic arches, narrow upper jaw, hypoplasticized lower jaw, wide elongated nose, absence of external auditory canal, middle ear anomalies, microstomy. These signs are often bilateral and symmetrical. Due to the narrowing of the retropharyngeal space, apnea and speech and hearing problems are common. Conductive deafness occurs due to dysembriogenesis of the middle and outer ear.
Fraser Syndrome is a rare autosomal recessive disorder that manifests itself in the form of cryptophthalmosis and nasal abnormalities, including a wide nose with a median groove, a low bridge of the nose, hypoplasmic nostrils, choan stenosis and a beaked face. There is also hearing loss due to a congenital malformation of the outer ear (auricle), stenosis.
Binder Syndrome is characterized by hypoplasia of the nose and maxillary sinus, compression of the middle of the face, hypoplasia of the anterior nasal spine, short columella and blunt nasofrontal angle. A special feature is atrophy of the nasal mucosa while maintaining a normal sense of smell.
Goldenhar Syndrome (craniofacial microsomy) is also manifested by nasal disorders in the form of hypoplasia of varying degrees. On the part of the ears, the manifestations are the absence of auricles, aplasia of the auditory canals and deafness.
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