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Hemifacial Macrosomia is a congenital condition in which one side of the face is underdeveloped. Most commonly it affects the ear and jaw, but may also involve the eye, cheek, and nerves. It occurs 1 in 3500 births as the second most common craniofacial disorder and is thought to be from an injury to the vascular and not genetic.

Other names associated are craniofacial macrosomia, oculoauriculovertebral syndrome, Goldenhar's syndrome (with epibulbar dermoid and vertebral anomalies).


Clinical presentation varies widely depending on how many tissues of the face are affected. A mild form may have a small skin tag in front of the ear and a slightly smaller jaw on that side. A severe form would be a child with no ear or very small ear and one side of the upper and lower face significantly smaller with the chin twisted to the small side and possibly no movement of part of the face. Most presentations are somewhere in the middle with a slightly smaller jaw and face and possibly a small ear. The condition is typically nonprogressive, meaning that the areas of the face that are affected at birth will typically remain similarly affected throughout growth and development, neither worsening nor getting better.

Diagnosis is made clinically by a craniofacial surgeon and team who will likely follow the child annually until skeletal maturity. A CT scan may be ordered to look at the bone structure if there is a surgery planned to determine what type of surgery on the bone will be most successful.


Treatment also is varied based on the severity for each patient. Less invasive surgeries such as skin tag excision or fat grafting may be performed before school age. To reconstruct the smaller bones of the jaw, often times we use bone from the ribs or possibly another site to build the jaw on one side that may be absent. Mandibular distraction is a tool used to grow bone on one side that is also used depending on severity. Almost always a final surgery towards the end of teenage years is necessary to correct any final dental and jaw abnormalities.