So far on “Two in a Million,” you met Owen and Giovanni, who have Schwartz Jampel Syndrome, and Tiffany and Yajaira, who have Jarcho-Levin Syndrome. This week’s story is no less heartbreaking — and heartwarming. Austin and Elena both have Goldenhar Syndrome, a facial abnormality that severely alters one side of the face. Learn all about this rare condition and how these two children deal with it every day.
What is Goldenhar Syndrome?
Goldenhar Syndrome, a type of Oculo-auriculo-vertebral spectrum (OAVS), is a birth defect that is characterized by malformations of a patient’s cheekbones, jaw, mouth, ears, and eyes. In about 60 percent of cases, those facial abnormalities occur on one side of the body, but in approximately 10 to 33 percent of cases, a patient has malformations on both sides of the face, with one side typically more affected than the other. The severity of the disease can vary greatly.
What causes it?
Researchers aren’t sure what causes it, but they know that it occurs during the early part of pregnancy. Some evidence points to a genetic cause — eitherautosomal dominant or recessive inheritance — but some experts hypothesize that Goldenhar may the result of several genes interacting in conjunction with environmental factors.
What are the symptoms?
As we mentioned above, Goldenhar is evident at birth due to obvious issues with facial structure. Some children have a cleft lip or cleft palate as well. These facial abnormalities often affect a patient’s tongue and teeth, which can make breathing, eating, and speaking difficult. In about 30 percent of cases, the patient has a cyst on or near the eye. Beyond issues with their face and neck, patients with Goldenhar syndrome may also have heart defects and kidney issues.
How rare is it?
Oculo-auriculo-vertebral spectrum tends to affect more boys than girls, and the estimated number of cases could be anywhere from one in 3,000-5,000 births to one in 25,000.
Is there a treatment?
There is no official treatment, although children with Goldenhar Syndrome will need to be closely monitored by a team of doctors who treat ear, nose, and throat-specific issues as well as ophthalmologists, cardiologists, and other specialists. Surgeries are often required (Elena has had 20 and Austin has had more than 50) to make day-to-day activities manageable. As with most diseases that affect the way you look, bullying can be a big issue.
You’ll hear Elena and Austin talk about the things that kids have done and said to them, so it’s important to treat Goldenhar Syndrome patients’ mental health with as much care as their physical symptoms.