A congenital defect characterized by facial abnormalities such as the incomplete development of ear, nose, mandible, lip, and soft palate, and other clinical features such as underdeveloped internal organs (e.g. heart, kidneys, lungs, etc.) may also be manifested
Goldenhar syndrome is a congenital defect. It occurs in about 1 in 50,000 births.1 The condition may be caused by several factors, probably including genetic factors. There is no clear genetic basis however a case of Goldenhar syndrome was presumed to be associated with mosaic trisomy 22.1 The condition is suggested to be caused by an anomaly during the early embryonic development of the first branchial arch and the second branchial arch.2
Goldenhar syndrome is characterized by facial abnormalities. There is an incomplete development of ear, nose, and mandible, lip, and soft palate. Most cases of Goldenhar syndrome involve unilateral facial abnormalities, i.e. affecting one side of the face. Nevertheless, the condition has been found to also occur bilaterally. Anomalies in the development of the internal organs (e.g. heart, kidneys, lungs, etc.) are also a common clinical feature.
The name is credited to Maurice Goldenhar, Belgian ophthalmologist, who first documented the condition in 1952.
- Oculo-Auriculo-Vertebral syndrome
1 Nyberg, D. A. (2003). Diagnostic Imaging of Fetal Anomalies. Lippincott Williams & Wilkins. p.153.
2 Touliatou, V., Fryssira, H., Mavrou, A., Kanavakis, E., Kitsiou-Tzeli, S. (2006). "Clinical manifestations in 17 Greek patients with Goldenhar syndrome". Genet. Couns. 17 (3): 359–70.