January 19, 2017

Craniofacial Disorders

Not always noticeable

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Craniofacial disorders refer to an abnormality of the face and or head. They are often caused by improper development of the skull and soft tissues of the head due to injury, birth defects or a disease. Craniofacial disorders such as a cleft lip or palate are sometimes obvious from birth, but in some cases they may not be noticeable until the baby grows and its head develops further. Because the fastest growth occurs in a child’s first year, it’s important to diagnose and treat these problems as soon as possible. In certain situations, a CT scan may be necessary to ascertain the condition. However, radiological testing won’t always provide enough information to diagnose the problem accurately. When this occurs, it’s often recommended to wait several weeks, or sometimes even months, to see if and how the condition develops further. It is often much easier to diagnose the issue at this point and then come up with a viable treatment plan.

Cleft lip or palate

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A cleft lip and or a cleft palate is a separation of the parts or segments of the lip or roof of the mouth, which are usually joined together during the early weeks in the development of an unborn child. A cleft lip is a separation of the two sides of the lip and often includes the bones of the maxilla and or the upper gum. A cleft palate is an opening in the roof of the mouth and can vary in severity. A cleft palate occurs when the two sides of the palate do not fuse as the unborn baby develops. Children with a cleft lip or a cleft palate often have problems with feeding and talking and may have a hearing loss. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental care and speech therapy as they get older. With treatment, most children with clefts do well and can lead a healthy life.

Apert syndrome

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Apert syndrome is a craniofacial condition involving abnormal growth of the skull and the face due to early fusion of certain sutures of the skull. Children with Apert’s have bulging eyes that are usually wide-set and tilted down at the sides. They usually have problems with teeth alignment due to the underdevelopment of the upper jaw. Some have a cleft palate. Children with Apert syndrome often have webbed fingers and toes. Apert syndrome can be passed down through families as an autosomal dominant trait. This means that only one parent needs to pass on the faulty gene for a child to have the condition. Some cases may occur without a known family history. Treatment consists of surgery to correct abnormal bone growth of the skull, as well as for the fusion of the fingers and toes. Children with this disorder should be examined by a specialized craniofacial surgery team. A hearing specialist should be consulted if there are hearing problems.

Treacher Collins

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Treacher Collins syndrome is a craniofacial condition in which the cheek bones and jawbones are underdeveloped. Children with this condition have very small or partially absent cheek bones and notches in or stretching of the lower eyelids. The ears are frequently abnormal and part of the outer ear is usually absent. It is estimated that Treacher Collins syndrome occurs in one of 10,000 births. Like nearly all birth defects, Treacher Collins varies in severity from patient to patient. In fact, some cases are so mild that they are never recognized unless they are seen by specialists experienced in making such a diagnosis. In other children, the physical abnormalities of the face and ears are much more obvious and functional problems may develop. Reconstructive surgery is available to improve the appearance of the face. Since not all children are affected to the same degree, both the necessity and the outcome of reconstructive surgery vary from child to child.

Into adulthood

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Children born with craniofacial conditions often require complex and specialized health care from infancy to young adulthood.  Experience has shown that this care is best managed when an interdisciplinary team of specialists work with the family to develop and follow a treatment plan. Craniofacial treatment teams are made up of specialists who coordinate to offer multiple types of health care, addressing craniofacial needs throughout a person’s life. These can include an audiologist, a plastic surgeon, a pediatric dentist, an otolaryngologist and a speech pathologist. The team can assist parents in locating support groups and any other sources for services that are provided at the community level. Since growth greatly affects the path of treatment and successful outcomes, a child must have thorough and regular assessments by a treatment team until young adulthood.  Some individuals may require additional care in their older adult years.

Trusted by thousands of listeners every week, T. Glenn Pait, M.D., began offering expert advice as the host of UAMS’ “Here’s to Your Health” program in 1996. Dr. Pait began working at UAMS in 1994 and has been practicing medicine for over 20 years.