Craniofacial anomalies (CFA) are a variety of deformities in the growth of the head and facial bones. Anomaly is a medical term meaning different from normal. These abnormalities are present at birth (congenital). There are numerous variations. Some are mild. Some are severe and need surgery. Some CFAs are associated with anomalies elsewhere in the body. These can be serious.
Most healthcare providers agree that there is no single factor that causes these types of abnormalities. Instead, many factors may contribute to their development. These include:
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Cleft lip or cleft palate. A separation that happens in the lip or the palate (the roof of the mouth). The separation can happen in both. Cleft lip and cleft palate are the most common congenital craniofacial anomalies seen at birth.
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Cleft lip. An abnormality in which the lip does not completely form. The degree of the cleft lip can vary greatly. It can be mild. This would be a notching of the lip. Or, on the other extreme, it could be severe. This could appear as a large opening from the lip up through the nose.
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Cleft palate. Happens when the roof of the mouth does not completely close. This leaves an opening that can extend into the nasal cavity. The cleft may involve either side of the palate. It can extend from the front of the mouth (hard palate) to the throat (soft palate). The cleft may also include the lip.
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Craniosynostosis. A condition in which the sutures (soft spots) in the skull of an infant close too early. This causes problems with normal brain and skull growth. Premature closure of the sutures may also cause the pressure inside of the head to increase. It may also cause the skull or facial bones to change from a normal, symmetrical appearance.
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Hemifacial microsomia. A condition in which the tissues on one side of the face are underdeveloped. This mostly affects the ear (aural), mouth (oral), and jaw (mandibular) areas. Sometimes, both sides of the face can be affected. This may involve the skull and the face. Hemifacial microsomia is also known as Goldenhar syndrome, brachial arch syndrome, facio-auriculo-vertebral syndrome, oculo-auriculo-vertebral spectrum, or lateral facial dysplasia.
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Vascular malformation. A birthmark or growth, present at birth, that is composed of blood vessels. It can cause problems in function or looks. Vascular malformations may involve multiple body systems. There are several different types of malformations. They are named according to which type of blood vessel is mostly affected. Vascular malformations are also known as lymphangiomas, arteriovenous malformations, and vascular gigantism.
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Hemangioma. A hemangioma is an abnormally growing blood vessel in the skin that may be present at birth (faint red mark) or appear in the first months after birth. A hemangioma is also known as a port wine stain, strawberry hemangioma, and salmon patch.
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Deformational (or positional) plagiocephaly. A misshapen (asymmetrical) shape of the head from repeated pressure to the same area of the head. Plagiocephaly literally means "oblique head" (from the Greek plagio for oblique and cephale for head).