Macrostomia

What is macrostomia?

Macrostomia is the result of a cleft in the cheek that is continuous with the corner of the mouth. It is a type of facial cleft referred to as a Tessier no. 7 cleft. The cleft can extend from the corner of the mouth to the ear. It is an extremely rare condition, occurring in 1 out of 60,000 to 300,000 people.

Why does macrostomia occur?

Macrostomia results from failure of fusion during development of the upper and lower jaw precursor tissues during the 7th week of gestation. It is not known why this failure of fusion occurs, but it is frequently associated with other conditions such as hemifacial microsomia.

What are the associated problems with macrostomia?

Aside from other simultaneously occurring problems representing components of a larger syndromic condition, macrostomia by itself is mostly a cosmetic deformity. Similar to hemifacial microsomia, a child with macrostomia may have other craniofacial deformities such as ear tags, underdeveloped lower jaw, dental problems, and other facial clefts. In addition, other organ systems may be involved, such as the spine, gastrointestinal tract, cardiac, renal, and pulmonary organs.

Can macrostomia be inherited?

Although various genetic markers have been identified in hemifacial microsomia, isolated macrostomia in the absence of other malformations is extremely rare and poorly understood. There may be a small increased risk of having an affected relative. It is difficult to estimate this increased risk due to ineffective reporting of mild variations of macrostomia within families, but it may be as high as 2 to 3 percent. A consultation with a genetics counselor is vital in accounting for all variables contributing to macrostomia and for providing a better foundation for family planning.

How is macrostomia treated?

There are several surgical options for correction of macrostomia. Incisions are placed along the borders of the cleft, both inside and outside the mouth. The muscles are then brought into continuity, including the all-important oral sphincter (or, orbicularis oris). The wound is then closed from inside out. Sutures are absorbable and do not require removal. The surgery takes less than 2 hours and can be done on an outpatient basis.

What is the recovery from macrostomia surgery?

Recovery from surgical correction of macrostomia is relatively simple. Patients must avoid contact sports or rough play for a period of at least 3 to 4 weeks. A soft diet is required for up to 6 weeks.

What are the risks and complications of macrostomia surgery?

Fortunately, complications from macrostomia repair are limited. Typical surgical risks include bleeding, infection, anesthesia complications, and bad scarring. Additionally, there is a chance of asymmetry and a possibility for future surgical revisions. Anesthesia pre-evaluation may be required in syndromic patients with airway issues or other systemic problems such as cardiac, pulmonary, or endocrinologic defects.