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Craniofacial anomalies (CFA) are a diverse group of deformities in the growth of the head and facial bones. The word craniofacial is derived from the word cranio, referring to the skull or cranium, and facial, referring to the face. Anomaly is a medical term meaning "irregularity" or "different from normal." Craniofacial annomalies (CFA) are a group of deformities involving the growth of the head and facial bones. These abnormalities are congenital (present at birth) and there are numerous variations - some are mild and some are severe and require surgery.
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Most medical professionals agree that there is no single factor that causes these types of abnormalities. Instead, there are many factors that may contribute to their development, including the following:
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- combination of genes - A child may receive a particular combination of gene(s) from one or both parents, or there may be a change in the genes at the time of conception, which results in a craniofacial anomaly.
- environmental - There is no data that shows a direct correlation between any specific drug or chemical exposure causing a craniofacial anomaly. However, any prenatal exposure should be evaluated.
- folic acid deficiency - Folic acid is a B vitamin found in orange juice, fortified breakfast cereals, enriched grain products, and green, leafy vegetables. Studies have shown that women who do not take sufficient folic acid during pregnancy, or have a diet lacking in folic acid, may have a higher risk of having a baby with certain congenital anomalies, including cleft lip and/or cleft palate.
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Some of the most common types of craniofacial anomalies include the following:
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- cleft lip and/or cleft palate - a separation that occurs in the lip or the palate (roof of the mouth), or both. Cleft lip and cleft palate are the most common congenital craniofacial anomalies seen at birth.
- cleft lip - an abnormality in which the lip does not completely form. The degree of the cleft lip can vary greatly, from mild (notching of the lip) to severe (large opening from the lip up through the nose).
- cleft palate - occurs when the roof of the mouth does not completely close, leaving 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.
- craniosynostosis - 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.
- hemifacial microsomia - a condition in which the tissues on one side of the face are underdeveloped, affecting primarily the ear (aural), mouth (oral), and jaw (mandibular) areas. Sometimes, both sides of the face can be affected and may involve the skull, as well as the face. Hemifacial microsomia is also known as Goldenhar syndrome, brachial arch syndrome, facio-auriculo-vertebral syndrome (FAV), oculo-auriculo-vertebral spectrum (OAV), or lateral facial dysplasia.
- vascular malformation - a birthmark or a growth, present at birth, which is composed of blood vessels that can cause functional or aesthetic problems. Vascular malformations may involve multiple body systems. There are several different types of malformations and they are named according to which type of blood vessel is predominantly affected. Vascular malformations are also known as lymphangiomas, arteriovenous malformations, and vascular gigantism.
- hemangioma - a type of birthmark; the most common benign (non-cancerous) tumor of the skin. Hemangiomas 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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In addition to bilateral coronal (and often sagittal) synostosis, and acanthosis nigricans, these patients often have narrowed jugular foramina, prominent emissary veins, cephaladcaudad narrowing of the spinal canal, and the potential for developing cementomas in the jaws. Basilar venous atresia, abnormal venous drainage hydrocephalus, and chronic tonsillar herniation also occur in other craniosynostoses.
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If the is deformity worsens or fails to improve after a trial of mechanical adjustments, then referral to a pediatric neurosurgeon, a general neurosurgeon with expertise in pediatrics, or a craniofacial surgeon or craniofacial anomalies team should be considered. For referrals to a specialist contact our Boston office directly for an appointment at 617-355-7252.
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Cranial asymmetry can be diagnosed at several different times. It can possibly be detected through prenatal ultrasound, may be present at birth or may develop during the first few months of life. Diagnosis of cranial asymmetry and deformational plagiocephaly in particular, can be established upon examination at birth or at health supervision visits up to 1 year of age.
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Ongoing studies with Dr. Mulliken include those with a focus on evaluating facial growth in children with a host of different craniofacial anomalies. Research conducted includes longitudinal studies to examine genetic, phenotypic, cognitive, and behavioral components of non-syndromic craniosynostosis.
Dr. Padwa's research interests fall within the fields of oral and maxillofacial as well as craniofacial surgery. Ongoing studies include those with a focus on evaluating facial growth in children with a host of different craniofacial anomalies. Research has ranged from rare disorders such as facial infiltrating lipomatosis and cervicofacial lymphatic malformation with associated skeletal overgrowth, to more common conditions such as cleft lip/palate and hemifacial microsomia.
Other research studies continue to focus on how a genetic mutation can result in craniofacial anomalies in addition to studying the normal gene. New techniques of gene therapy are currently being examined.
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