summary Goldenhar Syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disorder caused by an error in the embryological development of the ectoderm, that presents with thoracic scoliosis, crainofacial microsomia, and ocular desmoid cysts. Diagnosis is made based on family history associated with typical clinical features. Treatment involves a multidisciplinary approach to address spine manifestations, ocular abnormalities, and craniofascial abnormalities. Epidemiology Incidence relatively rare seen in 1:3500-25000 births Demographics affects males more than females (3:2) Etiology Pathophysiology results from an error in the embryological development of the ectoderm leads to unilateral arrest or dysplastic development of first and second branchial arches first pharyngeal pouch branchial cleft Genetics inheritance multifactorial but usually sporadic may have a genetic component rarely inherited in an autosomal dominant pattern (1-2%) Associated conditions spine thoracic scoliosis defects of vertebral segmentation (cervical most common) face partially formed or absent ear (microtia) benign growths around the eye (ocular desmoid cysts) chin or mouth deviated to the affected side cleft lip/palate systemic hearing defects kidney defects normal intelligence Presentation History may be detected at birth or pre-operative ultrasound screening Symptoms facial asymmetry hearing problems dental underdevelopment spinal deformity Physical exam inspection hemifacial microsomia tends to affect the right side of face spine aligment, rotation motion fixed spine curvatures neurovascular may be affected with spine anomalies Imaging Radiographs indication screening and assessment of spinal anomlies views full length spine radiographs (AP and lateral) findings cerviothoracic scoliosis defects of vertebral segmentation CT scan indications better visualization and planning of spinal anomalies views axial, sagittal and coronal cuts 3D reconstruction Treatment Nonoperative supportive therapy indications first line of treatment modalities monitor lung function monitor progression of scoliotic curve referral to ophthamology, ENT, plastic surgery, cardiology, and nephrology Operative thoracostomy and VEPTRL (vertical expandable prosthetic titanium rib) implantation indications progressive infantile scoliosis thoracic insufficiency syndrome Complications Curve progression can lead to thoracic insufficiency syndrome Spinal cord tethering Systemic complications cardiac renal