Images

Goldenhar Syndrome is an ‘umbrella’ term for a wide range of bone abnormalities affecting the face and sometimes the vertebrae. It has been proven not to be genetic.

Other names for this spectrum of problems are: Hemi-facial Microsomia; First and Second Branchial Arch syndrome; Facio-Auricular Vertebral Spectrum Oculo-Auricular Vertebral Dysplasia.

Goldenhar Syndrome was identified in 1952 by Dr. Maurice Goldenhar (hence the name), an ophthalmologist, who wrote a number of articles about facial problems that tend to occur together. Often in hospitals it is referred to as Hemifacial Microsomia (or Complex Hemifacial Microsomia).

Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve the eyes, ears and spine.

Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microstomia appears to be an intermediate form. (NORD)