• Abnormal Skull Shapes
• Combined Deformities of the Skull and Face
• Clefts
• Tumors
• Facial Fractures

Abnormal Skull Shapes

Plagiocephaly

Skull and facial asymmetry. At the front, asymmetry is caused by the premature fusion of the coronal suture on one side of the skull. At the back of the skull, occipital asymmetry is caused by a prematurely fused lambdoid suture.

Trigonocephaly

Wedge-shaped head. A bony ridge at the front of the head that gives it a wedge shape. This is caused by premature fusion of the metopic suture.

Scaphocephaly

Boat-shaped head. This is one of the more common skull deformities. It is caused by the early closure of the fontanelle and premature fusion of the sagittal suture.

Brachycephaly

Wide-shaped head. This skull deformity results when both coronal sutures fuse prematurely.

Malposition of the Orbits

The orbit is the bony area surrounding the eyeball. The eye grows for the first two years of life, causing the orbit to expand. Abnormal growth of the skull can also cause displacement of the orbit.

Hypertelorism

Increased distance between the eyes. This deformity may result from an encephalocele, Apert syndrome or other craniofacial problem. When the eyes are positioned too close together, it is known as hypotelorism.

Orbital Encephalocele

When brain tissue herniates or pushes through a skull defect at the orbits. This can be caused by abnormal skull growth.

Asymmetry of Orbits

Unequal height. This can be due to craniofacial microsomia or unilateral plagiocephaly.

Facial Asymmetry

Facial asymmetry, a noticeable difference in features from one side of the face to the other, is one of the more common craniofacial birth defects.

The unilateral form of hemifacial microsomia, a deformity of the ear and lower jaw, is the second most common craniofacial birth defect after cleft lip and palate.

Different facial structures may be involved from patient to patient. Seen less commonly is hemifacial atrophy, where the soft tissues on one side of the face slowly waste away.

Hemifacial hypertrophy is characterized by an enlargement of one side of the face. Other parts of the body on the affected side may also be involved.

Treacher Collins Syndrome

The skull is generally normal, but the ridges over the eyes may be underdeveloped. The cheekbones are underdeveloped or missing completely. Eyelids slope downward and ears are often abnormal in shape with impaired hearing present. The lower jaw is small and angles down, contributing to an open bite.

Combined Deformities of the Skull and Face

Apert Syndrome

A rare craniofacial development deformity. Apert syndrome is characterized by a number of deformities, including an abnormally shaped head, small upper jaw, hypertelorism and a normal lower jaw. The fingers and toes are fused together.

Crouzon Syndrome

A common craniofacial syndrome characterized by a combination of skull and facial deformity with hypertelorism and protruding eyeballs. Premature fusion of several sutures causes a short wide head. The upper jaw is underdeveloped.

Clefts

Lip and Palate

A cleft of the lip and palate can be complete or incomplete. In an isolated cleft palate, which involves only the palate, little aesthetic deformity may be present. However, functional problems can be severe, especially speech difficulties.

In Pierre Robin Syndrome, a cleft palate and small lower jaw combine to cause backward displacement of the tongue, which may affect breathing or eating in the first few months of life. Surgery to repair a cleft lip can take place at around three months. Cleft palate repair can be scheduled when the infant is about a year old.

Rare Facial Clefts

In rare facial clefts, there is extensive clefting of the face and skull. This condition is classified on a scale from 0 to 14 in a system devised by craniofacial surgery founder Paul Tessier.

Dental Malocclusion

When the teeth do not meet or align properly, it is known as malocclusion. This deformity can seriously affect eating, oral hygiene and speech.

Binder Syndrome

Flat midface and small, flat-tipped nose. The upper jawbone is set back, frequently resulting in a bite that positions the upper teeth behind the lower.

Small Lower Jaw

The most common jaw deformity, which results in a severe overbite.

Long Face

This deformity is characterized by a long face with an excessive amount of upper teeth and gums showing. This may result in a severe overbite.

Tumors

Recent advances in craniofacial surgery have made possible procedures to remove tumors that only a few years ago were considered inoperable. Among the most dramatic of these is the surgery involving a facial split.

This major breakthrough is an application of craniofacial surgery that has enabled neurosurgeons to reach inoperable or poorly accessible tumors at the base of the skull.

Other techniques that combine the skill of the craniofacial surgeon and neurosurgeon include:

Fibrous dysplasia – A tumor involving the craniofacial area. Usually benign, it occurs when normal bone-forming substance produces a form of fibrous connective tissue. It may involve one or multiple bones. Any bone of the skull may be involved. The dysplasia advances slowly, but may present danger to vital areas such as the optic nerve or middle ear.

Neurofibromas – Abnormal tissue growing from a nerve sheath. When present in the craniofacial region, neurofibromas are most often found in or near the orbits. Skin pigmentation, skeletal deformities and central nervous system involvement may also be present.

Surgery for Facial Fractures

Advancements in craniofacial surgery and new techniques for viewing facial fractures now permit surgeons to correctly repair such injuries.

The best time to correct a craniofacial fracture is within the first few days of the injury. Old, misaligned fractures also can be improved with the latest craniofacial techniques.

Craniofacial Team Members

Craniofacial Surgeon

The craniofacial surgeon is a plastic and reconstructive surgeon specifically trained to treat craniofacial conditions. As the team leader, this doctor coordinates the efforts of all other specialists. Through years of experience in treating craniofacial deformities, the craniofacial surgeon is able to recognize the more subtle distortions of the craniofacial region.

Oral and Maxillofacial Surgeon

Oral-Maxillofacial Surgery is a surgical specialty which involves the diagnosis, surgery and adjunctive treatment of diseases, injuries and defects involving both the functional and aesthetic aspects of the hard and soft tissues of the oral and maxillofacial region.

Pediatric Neurosurgeon

The pediatric neurosurgeon works with the craniofacial surgeon in patient evaluation and surgical procedures. The unique partnership between the neurosurgeon and craniofacial surgeon has led to the development of many new techniques at the center that allow for successful treatment of anomalies once thought uncorrectable.

Pediatric Neuroradiologist

The pediatric neuroradiologist is a physician who aids the surgeons in patient diagnosis and treatment. The radiologist uses a wide array of techniques, including computerized axial tomography (CAT scan), three-dimensional reconstruction of CAT scans, and magnetic resonance imaging (MRI) to document a child’s condition.

These exams provide much of the information needed to define a patient’s craniofacial problem. Images of the skull and facial bone structure, as well as the soft tissues of the brain, orbits and face, are studied in planning corrective surgery.

Pediatric Anesthesiologist

The anesthesiologist is a specialist in pediatric anesthesia and neuroanesthesia who monitors and supports the patient’s vital signs during surgery. He or she also uses special techniques such as hypotensive anesthesia to decrease blood loss.

Neuro-ophthalmologist

Craniofacial surgery often requires that the eyeball be moved or the skeleton be repositioned around the eye. The neuro-ophthalmologist performs a detailed examination of the eyes and evaluates the visual portion of the nervous system in order to predict what may happen when the eyes are moved in space.

Otolaryngologist

The otolaryngologist examines the patient and provides treatment for any problems relating to the ear, nose or throat. Particular attention is given to any structural abnormalities in the airway that might interfere with or influence the delivery of anesthesia during surgery.

Speech Pathologist

The speech pathologist provides assessment, diagnosis and treatment of speech and language problems, including detailed assessments of speech and palate function prior to surgery. When required, the pathologist makes audio and video recordings for analysis of speech sounds and lip and tongue movements, as well as to keep a record of the patient’s speech progress throughout treatment.

Geneticist / Pediatric Medicine

The geneticist determines whether a patient’s problems fit a known syndrome, providing the foundation for genetic counseling. Because some craniofacial syndromes are known to be hereditary, the geneticist may be able to advise you as to the risks for siblings and unborn children.

The information obtained by the geneticist also helps expand the current body of knowledge about craniofacial disorders. As more disorders are discovered and described in medical literature, new methods of treatment, and possibly prevention, can be developed.

Psychologist / Social Worker

Craniofacial deformities can have devastating effects. Together, the psychologist and social worker evaluate the effects of the facial deformity on patients and their families. Early in treatment, they work with the patient and family to set realistic expectations for surgery.

They answer questions concerning the surgery or hospital stay and provide insights that are helpful in preparing for surgery. They also provide family and individual counseling and referrals.

The psychologist uses a variety of age-based tests to evaluate the patient’s intellectual potential, academic achievement and psychological preparation for surgery. The social worker meets with parents to obtain a complete family history, assess coping abilities and expectations, and provide referrals to community resources, including family and patient support groups.

The psychologist and social worker serve as valuable family resources both when patients are in the hospital and after they return home.

Pedodontist / Orthodontist

The pedodontist and orthodontist play significant roles in the care of craniofacial patients, providing preventive, educational and therapeutic services related to oral hygiene.

The orthodontist may apply braces and plan surgical corrections to determine the amount of dental-skeletal movement necessary to achieve desired results.

Regular visits with the pedodontist (i.e., a pediatric dentist) and orthodontist are a critical part of the craniofacial patient’s care plan and help ensure optimal healing after surgery.

Note: The information above should not necessarily be considered valid for diagnosis or treatment of any specific patient. Only competently trained medical professionals can appropriately diagnose and treat someone with craniofacial birth defects.