Disease Information for Goldenhar syndrome: Definition

  • Mandibulofacial dysostosis with congenital eyelid dermoids--------------------Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum); FAV; Facio-Auriculo-Vertebral Spectrum; First and Second Branchial Arch Syndrome;

    Goldenhar-Gorlin Syndrome;OAV Spectrum; Oculo-Auriculo-Vertebral Dysplasia; subset Hemifacial Microsomia (HFM);

    Goldenhar Syndrome, a term that is often used synonymously with "Oculo-Auriculo-Vertebral (OAV) Spectrum," is a rare disorder that is apparent at birth (congenital); The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case; However, such abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae); Although, in most cases, such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry); In the majority of such cases, the right side is more severely affected than the left---------[NORD 2005]---------------