Oculo-auriculo-vertebral dysplasia
Oculo-auriculo-vertebral dysplasia (OAVD), also known as Goldenhar syndrome, is a rare congenital disorder characterized by abnormal development of the eye, ear, and vertebrae. The condition is typically present at birth and affects one side of the body more than the other.
Symptoms[edit | edit source]
The symptoms of OAVD can vary greatly among individuals. Common symptoms include microtia (underdeveloped ears), anophthalmia or microphthalmia (absence or underdevelopment of the eye), and vertebral anomalies. Other symptoms may include facial asymmetry, hearing loss, and heart defects.
Causes[edit | edit source]
The exact cause of OAVD is unknown, but it is believed to be due to a combination of genetic and environmental factors. Some researchers suggest that it may be caused by a disruption in the development of the first and second pharyngeal arches during embryogenesis.
Diagnosis[edit | edit source]
Diagnosis of OAVD is typically based on the presence of characteristic clinical features. Imaging studies such as MRI or CT scan may be used to confirm the diagnosis and assess the severity of the condition.
Treatment[edit | edit source]
Treatment for OAVD is symptomatic and supportive. This may include surgery to correct physical abnormalities, hearing aids for hearing loss, and physical therapy for mobility issues.
Prognosis[edit | edit source]
The prognosis for individuals with OAVD varies depending on the severity of the condition and the presence of associated complications. With appropriate treatment and management, many individuals with OAVD can lead normal lives.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Oculo-auriculo-vertebral dysplasia is a rare disease.
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