Otofaciocervical syndrome

Otofaciocervical syndrome is a rare genetic disorder characterized by anomalies in the structure and function of the ears, face, and neck. The syndrome is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder to each of their offspring.

Symptoms

The primary symptoms of Otofaciocervical syndrome include hearing loss, distinctive facial features, and neck abnormalities. The hearing loss is typically sensorineural, meaning it is caused by damage to the inner ear or nerve pathways from the ear to the brain. Facial features can include a long face, small lower jaw, large nose, and wide-set eyes. Neck abnormalities can include a short neck, low hairline at the back of the neck, and limited movement of the neck.

Causes

Otofaciocervical syndrome is caused by mutations in the EYA1 gene. This gene provides instructions for making a protein that is involved in the development of the ears, face, and neck. Mutations in the EYA1 gene disrupt the normal development of these structures, leading to the symptoms of Otofaciocervical syndrome.

Diagnosis

Diagnosis of Otofaciocervical syndrome is based on the presence of characteristic symptoms and can be confirmed by genetic testing to identify a mutation in the EYA1 gene.

Treatment

Treatment for Otofaciocervical syndrome is symptomatic and supportive. It may include hearing aids for hearing loss, physical therapy for neck abnormalities, and surgery to correct facial anomalies.

See also

• Genetic disorder
• Autosomal dominant
• EYA1
• Hearing loss
• Sensorineural hearing loss

NIH genetic and rare disease info

• NIH info on Otofaciocervical syndrome

Otofaciocervical syndrome is a rare disease.

Otofaciocervical syndrome Resources
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