This condition has a number of synonyms, including Goldenhar syndrome, first and second brachial arch syndrome, and hemifacial microsomia. The major malformations represent developmental anomalies in structures arising from the first and second branchial arches i.e. ears, mouth and mandible. There are commonly associated anomalies involving the eyes (epibulbar dermoids) and vertebrae. The condition varies in its expression from isolated microtia, less serious anomalies through to major malformations. It occurs with a frequency of around 1:3000-1:5000 and there is a slight excess of affected males. It is usually sporadic although some familial cases have been reported. Prenatal diagnosis has been reported as early as the 15th week gestation.
Features tend to be asymmetrical and in 70% of cases are unilateral. There are various combinations of malformation including malar, maxillary and mandibular hypoplasia, facial muscle hypoplasia, microtia, preauricular skin tags and pits, variable middle ear anomalies and associated deafness, epibulbar dermoids and hemivertebrae or vertebral hypoplasia which is most often cervical but occasionally thoracic and lumbar.
Many of the features of the VATER association may be present in oculo-auriculo-vertebral syndrome (vertebral, radial, cardiac anomalies) but VATER syndrome is not generally associated with facial abnormality. Likewise, some of the features of the CHARGE association (Coloboma, heart disease, atresia choanae, retarded growth and development, genital anomalies and ear anomalies) overlap with oculo-auriculo-vertebral syndrome but the full spectrum is usually recognizable as a distinct entity. Treacher-Collins syndrome (mandibulo-facial dysostosis) usually exhibits bilateral, symmetrical malformations in contrast to oculo-auriculo-vertebral syndrome. The malar hypoplasia is generally more severe than in Goldenhar syndrome in which there may also be involvement of heart, vertebrae and other skeletal manifestations.
Abnormalities of the auricle
Vertebral anomalies cervical vertebral fusion in 25-30%
Klippel-Feil anomaly – spina bifida – hemivertebrae – butterfly vertebrae – fused and hypoplastic vertebrae
Talipes equinovarus (20% of cases)
Occasional anomalies: Cardiac (up to 58% of reported cases)
Tetralogy of Fallot Renal – absent kidney -hydronephrosis
Gastro-intestinal – tracheo-esophageal fistula – imperforate anus
Skeletal – radial limb anomalies – rib anomalies (fused, absent, supernumerary)
Benacerraf BR, Frigoletto FD Prenatal ultrasound recognition of Goldenhar’s syndrome Am J Obstet Gynecol 159:950-952
Tamas DE, et al Prenatal sonographic diagnosis of hemifacial microsomia (Goldenhar-Gorlin syndrome) J Ultrasound Med 5:461-463