Goldenhar syndrome is a heterogeneous disorder resulting in craniofacial and vertebral malformations. Due to its low prevalence and extreme phenotypic variation, there is limited published literature on the disorder. The aim of this paper is to provide an updated review of the literature in order to improve awareness of Goldenhar syndrome and to guide physicians in their diagnosis and treatment plans. Goldenhar syndrome is a multifactorial disorder with most cases being sporadic, though autosomal dominant and autosomal recessive cases have been reported. Due to the high degree of phenotypic variation, Goldenhar syndrome is considered to be part of the oculo-auriculo-vertebral spectrum. Although there are no minimal diagnostic criteria, patients typically present with varying degrees of microtia, ear tags, craniofacial microsomia, eye anomalies, and diverse vertebral anomalies. For optimal outcomes, a multidisciplinary approach is required to best address ocular, auricular, vertebral, craniofacial, dental, and psychological manifestations. This paper reviews the etiology, risk factors, screening procedures, clinical features, and treatment for Goldenhar syndrome in order to aid in the early diagnosis of affected individuals and improve treatment outcomes.
Level of Evidence: Not ratable.
- Goldenhar syndrome