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Macrostomia is a rare genetic deformity of the mouth that can severely delay speech and language development. It is best treated shortly after birth with myoplasty and other corrective procedures. Macrostomia is often part of the larger ablepharon macrostomia syndrome, which includes deformities of the head, face, and other body parts. Corrective surgery is necessary to improve the condition and offer the best chance for normal growth and development.
Macrostomia, also known as Tessier No, 7 and transverse facial fissure, is a genetic deformity of the skin, muscles, and tissues surrounding the mouth. This craniofacial abnormality is present at birth and best treated shortly thereafter, because this type of cleft can severely delay speech and language development. Although macrostomia is rare, it is typically present in a genetic disorder known as ablepharon macrostomia syndrome (AMS).
Macrostomia, which literally means “abnormal width of the mouth,” occurs in one in every 80,000 births. It accounts for one in every 200 facial clefts and is typically most evident when a child laughs or cries, because the missing muscle and tissue becomes apparent as the face lengthens. The most common treatment for this deformity is myoplasty, or plastic surgery of the muscles, and other facial corrective procedures that are most successful when performed shortly after birth. In addition to aesthetic purposes, corrective surgery for macrostomia is necessary so that the child can learn to speak correctly and, in the most serious cases, to eat.
The most common form of this craniofacial cleft is lateral macrostomia, which occurs 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 fissure, affecting both sides of the mouth and face. This can often make it appear as if a child is wearing a mask or has 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 anomaly is often part of the larger AMS. This genetic disorder is extremely rare and includes deformities of the head, face, abdominal wall, nipples, fingers, genitals and skin. In addition to having a lateral or bilateral facial cleft, children with AMS often have few or no eyelids, eyelashes, and eyebrows. While corrective surgery is used to treat AMS for both facial clefts and other abnormalities, the chances of mental retardation with AMS are extremely high.
While appearance is a concern for patients with macrostomia, the subsequent speech delays and learning disabilities associated with those delays are the greatest concern for both physicians and parents. Surgery is not guaranteed to correct the problem but, in most cases, it improves the macrostomia considerably. Therefore, corrective surgery conducted as soon as possible is the best treatment for these patients and offers the best chance for them to grow and develop normally.
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