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Craniofacial Disorders
An abnormality of the face or head is referred to as a craniofacial disorder. According to the Children's Craniofacial Association (CCA), craniofacial irregularities can come from abnormal growth patterns of the face or skull resulting in disfigurement. Birth defect, disease or trauma, according to CCA can bring about a craniofacial condition.
Craniosynostosis is a condition that some children have at birth or will develop later. It happens when the bones of the skull fuse prematurely. According to CCA, the skull is made up of several bones and the area where the bones meet are called sutures. It is at the sutures where you'll find the so-called "soft spots" on a baby's skull. When one of these sutures fuses too early, growth in that area stops. This inability to grow in one area may lead to overgrowth in another resulting in an abnormal shaped skull. If more than one suture is fused too early the disorder is referred to as multi-suture craniosynostosis. CCA lists four syndromes involving multi-suture fusion. All of them result in abnormal growth of the head. They are:
- Apert syndrome - also results in bulging eyes that tend to be wide set. Other problems can involve teeth and the upper jaw. There may also be webbed toes and fingers.
- Crouzon syndrome - there tends to be bulging eyes as a result of abnormal growth in the middle of the face. Other problems tend to affect the face because the upper jaw recedes and the lower jaw protrudes.
- Pfeiffer syndrome - results in a high forehead and what looks like a pointed head. The face will appear flat with a small nose and eyes that are wide apart. The lower jaw appears to protrude because the upper jaw is less developed. The teeth usually are crowded as a result. Thumbs and big toes also look large.
- Saethre-Chotzen syndrome - the eyes, the nose and the upper jaw are all potentially affected. The eyes will be widespread and bulging, they may be crossed and the eyelids will droop. The upper jaw is underdeveloped, the nose may look beaked and the area between the nostrils can be off-center. Fingers tend to be short and some may be fused.
Other craniofacial conditions listed by CCA include:
- cleft lip and/or palate (Read about "Cleft Lip and Cleft Palate")
- facial cleft - a rare condition where some bone or even skin is missing in the head.
- facial palsy - a loss of control over facial expressions
- frontonasal dysplasia - is also called Median Cleft Face Syndrome it results in a groove down the middle of the face.
- hemangioma - also called a birth mark (Read about "Vascular Birthmarks")
- hemifacial microsomia/Goldenhar syndrome - happens when the lower part of one side of the face doesn't grow properly. Often there may be just a partial ear or none at all. With Goldenhar syndrome, there are also benign eye growths. (Read about "The Eye")
- microtia/atresia - is when the ear doesn't grow properly. Microtia refers to the ear growth; atresia refers to the lack of growth of the ear canal.
- Moebius syndrome - is the paralysis of the 6th and 7th cranial nerves. It results in the lack of facial expressions and the inability to smile.
- Miller syndrome - CCA calls this very rare. It results in multiple facial deformities as well as many other physical problems.
- Nager syndrome - results in numerous facial abnormalities as well as other deformities including small or missing thumbs.
- Pierre Robin syndrome - the lower jaw is small and the tongue may fall backward. Cleft lip and/or palate are also possible. (Read about "Cleft Lip and Cleft Palate")
- Treacher Collins - the cheeks and jawbones are underdeveloped. The ears are usually also affected and there is often hearing loss. (Read about "Hearing Loss")
Treatment for craniofacial defects varies depending on many factors, such as the type and the severity of the condition. Surgery may be an option as part of a comprehensive treatment plan. Discuss the issues with your physician.
Related Information:
Birth Defects
All Concept Communications material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.
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