Diagnosis begins with a comprehensive medical history and physical examination and, in some cases, a meeting with a genetic counselor. Since hemifacial microsomia is so complex and has such a wide range of symptoms and severity, a child with symptoms of hemifacial microsomia should be evaluated by a specialist or specialists experienced in diagnosing craniofacial anomalies. The child will likely have imaging tests to assist the medical team make the diagnosis:
X-rays of the head and face create images of internal tissues and bones and allow the medical team a quick look into the patient’s skull.
Computed tomography (CT) scans are much more detailed than x-rays and can produce cross-sectional images (“slices”), both horizontally and vertically, of bones, muscles, fat, and organs. A CT scan is noninvasive, but it does require time in a scanner to produce those tiny slices of images, which are then combined into three-dimensional pictures.
Treatment Options
Every child with hemifacial microsomia should have an individual treatment plan developed by an expert craniofacial team. There are many variations on hemifacial microsomia, with symptoms that range from mild to severe and that may involve several different facial structures — each requiring a different specialist. A child with facial deformities may also need emotional and social support. The best treatment plan is multidisciplinary and may involve evaluations and recommendations from:
Moderate to severe hemifacial microsomia usually requires surgery, often multiple surgeries, to correct the deformities (see Surgery for Hemifacial Microsomia). Surgeries need to be timed around the child’s growth and development.
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Reviewed by: Mark M. Souweidane, M.D.
Last reviewed/last updated: January 2019
