Macrostomia, also known as Tessier No, 7 and transverse facial cleft, is a genetic deformity of the skin, muscle and tissue surrounding the mouth. This craniofacial abnormality is present at birth and best treated shortly after, because this type of cleft can severely delay speech and language development. While macrostomia is rare, it is typically present in a genetic disease known as ablepharon macrostomia syndrome (AMS).
Macrostomia, which literally means “abnormal largeness of the mouth”, occurs in one of every 80,000 births. It accounts for one of every 200 facial clefts and is typically most obvious when a child is laughing or crying, because the missing muscle and tissue become apparent as the face stretches. The most common treatment for this deformity is myoplasty, or plastic surgery of the muscles, and other corrective facial procedures that are most successful if they are performed shortly after birth. Other than aesthetic purposes, corrective surgery for macrostomia is needed so the child can learn to speak correctly and, in more severe cases, be able to eat.
The most common form of this craniofacial cleft is lateral macrostomia, which is when only one side of the mouth and face is affected. Of lateral facial clefts, most occur on the left side of the face. An even rarer form of macrostomia is a bilateral facial cleft, which affects both sides of the mouth and face. This can often make a child appear to be wearing a mask or to have two faces. These cases require corrective surgery as quickly as possible, because children with bilateral macrostomia often have extreme difficulty eating or cannot eat at all.
This craniofacial abnormality is often part of the larger AMS. This genetic disorder is exceedingly rare and includes deformities of the head, face, abdominal wall, nipples, fingers, genitals and skin. Along with having a lateral or bilateral facial cleft, children with AMS often have little to no eyelids, eyelashes and eyebrows. While corrective surgery is used to treat AMS for both the facial clefts and other abnormalities, the chances of mental retardation with AMS are extremely high.
While appearance is of concern for patients with macrostomia, the subsequent speech delays and learning disabilities associated with those delays are the greatest concern for both doctors and parents. Surgery is not guaranteed to correct the issue but, in most cases, it improves macrostomia dramatically. Therefore, corrective surgery conducted at the earliest possible time is the best treatment for these patients and provides their best chance of growing and developing normally.