Hemifacial Microsomia | Diagnosis

Hemifacial microsomia is a congenital (present at birth) condition in which the tissue and/or structures on one side of the face are underdeveloped or absent. It is the second most commonly diagnosed facial birth defect after cleft lip and cleft palate.

How is hemifacial microsomia diagnosed?

An experienced geneticist — a specialist in disorders resulting from a problem in the genes — is the best expert to diagnose hemifacial microsomia. However, experts do not believe that all cases of hemifacial microsomia are linked to genetics. The geneticist will usually diagnose hemifacial microsomia with a physical examination of your child and by reviewing his or her medical history.

There is no single test for hemifacial microsomia, but several tests may be used to confirm a diagnosis. Possible diagnostic test include:

  • X-rays of the head
  • Computed tomography (CT) scan

Make an appointment

For an appointment with the Cleft and Craniofacial Center, more information or to obtain a second opinion for your child, please call us at 617-355-6309 or email samantha.hall@childrens.harvard.edu.

International patients

For families residing outside of the United States, please call Boston Children's International Health Services at +01-617-355-5209.