Craniofacial Syndromes

What is a Craniofacial Syndrome?

A craniofacial syndrome (group of symptoms that occur together and characterize a particular abnormality) refers to an abnormality of the face and/or the head. Craniofacial differences can result from abnormal growth patterns of the face or skull, which involves soft tissue and bones. A craniofacial condition may include disfigurement brought about by birth defect, disease or trauma. Craniofacial syndromes vary considerably in type, level of severity, and physical symptoms. Syndromes always include a cluster of symptoms, most often affecting the form, function and appearance of the head, face and neck region. Differences may be found in other areas of the body as well.

What Symptoms are Suggestive of a Craniofacial Syndrome?

Craniofacial syndromes may include various craniofacial conditions. A craniofacial condition may be part of a syndrome, or may occur separately from a syndrome. Treatment may include surgical release of any fused skull sutures, release and repair of fused/webbed digits, palatal closure, ear tubes, speech therapy, staged orthodontics, mid-face advancement, and possibly eye surgery.

How is a Craniofacial Syndrome Diagnosed/Managed?

When a child is born with a craniofacial issue, we evaluate many factors in order to develop the most effective treatment plan. We study how the child's underlying structures and functions are affected, including: the brain and facial skeleton, the central nervous system, the senses and parts of the spine (cervical vertebrae). In patients whose facial skeleton is affected, we carefully identify resulting changes in the soft tissues of the face, mouth and top of throat (pharynx). It's imperative to quickly determine how their condition is affecting normal, critical functions such as breathing, swallowing and speaking, so that we can promptly begin appropriate treatment.

In most syndromes, the abnormal growth patterns continue throughout the growing years because they were programmed into the body while the embryo was forming. In order to correct and repair the child's areas of concern, we evaluate the anatomical and functional problems and carry the treatment plan out in stages. At each new level of maturity, we'll take advantage of the natural windows of opportunity for reconstruction and other surgical procedures. We must time each intervention carefully, because when we change or correct part of a child's body, that surgery indirectly affects the body's growth and development "messages." Our broad range of experience allows us to not only identify the most appropriate timing for repairs but to also respond to unpredictable changes as we go.