A craniofacial disorder is any type of abnormality of the head or face, and can occur from birth defects, trauma or tumors. The causes of head and facial birth defects may be genetic, environmental, or unknown. Craniofacial disorders range from mild to severe, and can affect function and appearance. Early diagnosis and treatment can offer the best results; surgery is often performed before a child begins school, minimizing the trauma of looking different.

The craniofacial skeleton

The word craniofacial combines two words: cranial, “of the cranium (skull bones),” and facial “of the face.” The craniofacial skeleton is divided into three categories: The cranium (skull) which includes the upper face and forehead; the midface, which includes the orbits (eyesockets), nose, maxilla (upper jaw) and zygoma (cheek bones); and the lower face, which includes the mandible (lower jaw).

Craniofacial disorders

Cleft Lip and Palate occurs in one of every 600 births and is one of the most common birth defects. A cleft is a split or opening in the lip or palate (roof of the mouth, see figure 1a).

It can occur in the lip, the palate, or in both. The cleft can be unilateral (on one side of the mouth, see 1b) or bilateral (affecting both sides, see 1c).

Problems associated with this condition can include: eating and speech difficulties; ear infections; and malocclusion (improper alignment of teeth). Cleft lip repair surgery can be done when an infant is 10 weeks old (see 1d); the palate can be surgically corrected as early as six months of age. Other procedures may be required as the face grows and matures, depending on the severity of the cleft.

Misshapen Head

Abnormal head shapes may result from various causes. The skull is made up of multiple bones, with growth junctions (sutures) between them. During the delivery process the skull contracts (the bones overlap) in the birth canal. This may cause temporary distortion of the head, which should return to normal within six weeks. The sutures also allow the skull to expand during rapid brain growth in the first year of life.

Craniosynostosis can affect one or more sutures. The names indicate the shape that occurs when different sutures are involved. Early closure (synostosis) of one of these crainal sutures can cause uneven growth of the skull. As the brain enlarges, skull growth in the prematurely closed area is constricted, forcing bone overgrowth in other areas. Treatment for craniosynostosis requires surgery.

Plagiocephaly (Fig.2a): uneven shaped forehead. Trigonocephaly (Fig.2b): triangular shaped forehead. Scaphocephaly (Fig.2c): long narrow head. Brachycephaly (Fig.2d): short wide head. A craniofacial disorder is any type of abnormality of the head or face, and can occur from birth defects, trauma or tumors. Craniofacial disorders range from mild to severe, and can affect function and appearance. Early diagnosis and treatment can offer the best results; surgery is often performed before a child begins school, minimizing the trauma of looking different. 

Positional molding, and the abnormal head shapes it causes, can be associated with premature birth, restrictive intrauterine positioning, cervical abnormalities, birth trauma, torticollis (shortening of the neck muscle) and even sleeping positions. Treatment for positional molding includes repositioning the head, exercise, and/or a corrective orthotic headband. Positional molding may resemble craniosynostosis. It is essential to obtain the correct diagnosis for proper treatment.

Goldenhar Syndrome is a condition in which half of the face does not fully develop. It includes partial or complete absence of an ear, and the chin is off-center, caused by underdevelopment of the jaw. Patients may also have problems with the neck, eye, orbit and heart, as well as facial skin tags and clefts. (Figure 3).

Crouzon, Apert and Pfeiffer Syndromes are characterized by abnormalities of the skull and the upper and midfacial region. The skull is affected by craniosynostosis, which causes a flattened forehead. The eyes are in a normal position, but the forehead and midface bones are sunken, giving the eyes a bulging appearance. Problems associated with these syndromes include difficulty in speaking and eating (caused by underdevelopment of the midface). Vision and hearing can also be affected. Narrow air passages may cause breathing and feeding problems in infants. Apert syndrome also involves syndactyly (webbing) of the fingers and toes. (Figure 4).

Treacher Collins Syndrome causes an underdevelopment of bone in the lower eye socket, midface and lower jaw. The eyelids slope downward and the ears are often abnormal in shape, and heavily impaired. The jaw abnormality affects speech, chewing and breathing. (Figure 5).

Tumors of the skull base The skull base is the bony shelf upon which the brain rests. Because of the critical anatomy in this area, skull-base tumors were inoperable only a few years ago, but the situation has changed for the better. By applying medical expertise from multiple specialties, state-of-the-art equipment and advances in craniofacial techniques, surgeons can now access and remove tumors located in the base of the skull.

Jaw Abnormalities The upper and lower jaws work together with the tongue and teeth to perform many functions: speaking, chewing and swallowing, facial expressions and breathing. A wide variety of abnormalities (size, shape and/or alignment of any of these structures), can affect one or more functions, in addition to causing a distorted appearance. A multidisciplinary team approach is necessary to correct the problems of alignment in the teeth, jaws, and gums. Underdevelopment of the lower jaw (weak chin) is a medical condition known as micrognathia or retrognathia. Underdevelopment of the upper jaw known as maxillary hypoplasia can be caused by a cleft palate. Overdevelopment of the lower jaw is known as prognathism. Either one or both of these conditions can cause an underbite. Any jaw abnormalities can result in breathing, eating and speaking difficulties. Treatment includes orthodontics and surgery, typically without any visible incisions on the face.

Fractures and Soft Tissue Injuries Craniofacial surgeons have developed procedures to repair facial injuries. These surgical techniques can be applied to healed fractures, but the most appropriate time to correct facial trauma is as early as possible after the injury.