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Home / A–Z Services / Cleft and Craniofacial Center / Craniofacial Conditions
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Craniofacial Conditions


Craniofacial anomalies are a diverse group of abnormalities in the growth of the head and facial bones. Anomaly is a medical term meaning "irregularity" or "different from normal." These abnormalities are congenital (present at birth). Some are mild, but some are severe enough to require surgery.

Kevin Kelly, M.D.

These are some of the most common types of craniofacial anomalies.

Apert syndrome, also known as acrocephalosyndactyly type 1 (ACS1), is a rare genetic disorder that occurs when the bones in the skull fuse together sooner than normal. This prevents the head from growing normally and affects the shape of the face. Some of the child's fingers and toes may also be webbed or fused together. In addition, some people may have intellectual disabilities that range from mild to severe.

Craniosynostosis is a condition in which the sutures (soft spots) in the skull of an infant close too early, causing problems with normal brain and skull growth. Premature closure of the sutures may also cause the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance. Learn more about craniosynostosis.

Crouzon syndrome is a genetic birth defect characterized by abnormalities in the skull and facial bones. This syndrome often causes the skull to be short in the front and the back. Flat cheek bones and a flat nose are also typical of this disorder.

Dental deformities of various kinds can create severe problems developing a normal bite. Patients may have underdeveloped jaws or projecting jaws, or a mid-face that is too far back. These conditions can lead to facial deformity and bite problems, resulting in difficulty chewing as well as low self esteem. This type of short or long facial height can be corrected surgically by reducing or lengthening of the jaw. This creates a much more pleasing appearance and helps with normal tooth development.

Goldenhar (also called oculoauricular dysplasia or oculoauriculo-vertebral spectrum) is a rare congenital condition that affects about one in every 5,000 births. Goldenhar disease can lead to deformed bones and muscles in the face, missing or partially formed ears, growths in the eyes, and spinal problems. It can also affect the heart, lungs, kidneys, and central nervous system. The cause isn't known. Treatment is customized for each patient and may include surgery on the cheeks, jaw, eyes, ears, teeth, and palate. Speech therapy and hearing aids may also be used.

Head and Neck Oncology. Tumors of the craniofacial and facial skeleton require quick and efficient removal. In addition, cancer patients often require surgery to restore their appearance. The surgical team at the Craniofacial Center provides the expertise to address the multiple needs of patients with head or neck cancer for both tumor removal and reconstructive surgery.

Hemifacial Microsomia (HFM) is a condition in which the tissue on one side of the face is underdeveloped, affecting primarily the aural (ear), oral (mouth), and mandibular (jaw) areas. The condition may sometimes affect both sides of the face and may involve the skull as well. Hemifacial microsomia is also known as Goldenhar syndrome, brachial arch syndrome, facio-auriculo-vertebral syndrome, oculo-auriculo-vertebral spectrum, or lateral facial dysplasia. Learn more about hemifacial microsomia.

Orbital Hypertelorism is a condition in which the position of the bones around the eyes is further to the side than normal. This causes the eyes to be too far apart, grossly deforming the appearance. This can be corrected with a procedure called an orbital osteotomy. The excess bone between the eyes is removed, and the bone containing the eyes is moved back toward the middle of the face. 

Plagiocephaly. Deformational (or positional) plagiocephaly refers to a misshapen (asymmetrical) shape of the head (cranium) from repeated pressure to the same area. Plagiocephaly literally means oblique head, from the Greek words plagio for oblique and cephale for head. Learn more about plagiocephaly.

Post Trauma Cranial and Facial Reconstruction. Plastic surgeons are trained to repair injuries to the face and nearby structures (nose, cheek bones, eye sockets, ears, scalp and skull). To reconstruct the face or skull, the surgeon will align bones and provide a way to hold them in place for healing, which may take several weeks or months. Complex injuries sometimes require many surgeries. The techniques used depend on the location and severity of the fractures.

Temporomandibular Joint Disorders (TMJ) is the acute or chronic inflammation of the temporomandibular joint, which connects the jaw to the skull. This can result in significant pain and impairment. For many patients, surgery and total joint reconstruction can make significant progress to relieve chronic pain.

Treacher Collins syndrome (TCS) is a rare genetic disorder that causes abnormal development of facial bones and tissues, resulting in a wide range of facial defects. Symptoms vary from barely noticeable to severe. In general, most people have underdeveloped facial bones, especially cheekbones. Significant improvement can be obtained with craniofacial surgery.

Last Edited: June 14, 2016
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