From the Research
Definition and Characteristics
- Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a congenital condition that affects the development of the craniofacial region, spine, and ears 1, 2, 3, 4, 5.
- It is characterized by a wide range of symptoms, including facial asymmetry, microtia or anotia, cleft lip or palate, vertebral anomalies, and eye abnormalities 2, 3, 5.
- The condition can vary in severity and may involve unilateral or bilateral involvement 1.
Clinical Manifestations
- The syndrome presents several complex problems in treatment, requiring an integrated, multidisciplinary approach 1.
- Clinical manifestations include dermal epibulbar cysts, auricular appendices, and malformations of the ears 5.
- Radiographic features may include multiple substantial unilateral anomalies affecting the skull, cervical vertebrae, orbits, ears, maxilla, mandible, and teeth 1.
Diagnosis and Management
- Diagnosis is typically made based on physical examination and imaging studies 2.
- Management may involve a multidisciplinary team of healthcare professionals, including geneticists, audiologists, and plastic surgeons 2.
- Treatment options depend on the specific symptoms and may include surgery, hearing aids, and speech therapy 2.
Etiology and Genetics
- The cause of Goldenhar syndrome is not fully understood, but it is thought to be related to disruptions in the early embryonic development of the affected tissues 2.
- The condition is characterized by genetic and clinical heterogeneity, with incomplete penetrance and variable expressivity 3.
- Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far 3.