Approximately one third of patients with microtia have underdeveloped bony and soft tissue on the affected side of the face, also known as hemifacial microsomia. In extreme cases that include internal organ defects on the affected side of the body, that disease is known as Goldenhar Syndrome. About 15% of patients have facial nerve weakness. Other associated abnormalities seen less frequently include cleft lip as well as cardiac and urological problems. In addition, microtia can sometimes be a symptom of Treacher Collins syndrome. It is important to have your child evaluated to determine if the microtia is part of a more widespread birth defect.
Goldenhar is a very rare syndrome evident at birth with symptoms that can vary wildly from person to person. It affects 1 in 3500 to 1 in 26000 live births on average. Microtia is one of the more common side effects of this syndrome, but incomplete development of the nose, soft palate, lip, mandible, heart, kidneys and lungs can also occur on the affected side. In addition, severe scoliosis, hearing loss and blindness may arise as well. Similar to microtia, the exact cause for Goldenhar is unknown but is attributed typically to either a multifactorial genetic inheritance or intra-uterine exposure to traumatizing environmental factors. Apart from serious heart defects, Goldenhar does not usually shorten life expectancy or intelligence. The support of a multidisciplinary team is necessary for facial reconstruction, speech therapy and any repairs needed by affected internal organs.