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Craniofacial Anomalies

  • Overview

    Craniofacial anomalies (CFA) are a diverse group of deformities in the growth of the head and facial bones.

    • These abnormalities are congenital (present at birth).
    • Some are mild and some are severe and require surgery.

    What are some of the more common CFAs?

    A team approach to diagnosis and care

    The Craniofacial Anomalies Program at Boston Children's Hospital provides a team approach to the evaluation, diagnosis and treatment of children and adults with congenital or acquired facial deformities. If your or your child has been suffering from one of these conditions, our doctors can help.

    Expert team

    Our program is staffed by an experienced team of clinicians, all with specialized training in the care of children with craniofacial anomalies.

    Each year we treat more than 500 patients, 250 of them new patients, making our program one of the most experienced programs of its type in the country.

  • In-Depth

    What causes craniofacial anomalies?

    Most medical professionals agree that there is no single cause of these types of abnormalities.

    Instead, there are many factors that may contribute to their development, including the following:

    • Combination of genes - Your child may have received a particular combination of gene(s) from one or both parents, or there may have been a change in the genes at the time of conception, which results in a craniofacial anomaly.
    • Environmental - As of now, we don’t have any date that shows a direct correlation between any specific drug or chemical exposure and 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.

    What kinds of symptoms might my child have?

    Symptoms vary by condition. Your child’s doctor can help you understand your child’s symptoms.

    How are craniofacial anomalies diagnosed?

    Cranial asymmetry can be diagnosed at several different times. It can sometimes be detected through prenatal ultrasound, may be present at birth or may develop during the first few months of life.

    When should we talk to a specialist?

    If your child’s deformity worsens or fails to improve after a trial of mechanical adjustments, then you should consider contacting a pediatric neurosurgeon, a general neurosurgeon with expertise in pediatrics, or a craniofacial surgeon or craniofacial anomalies team.

  • Tests

    Cranial asymmetry can be diagnosed at several different times. It can sometimes be detected through prenatal ultrasound, may be present at birth or may develop during the first few months of life.

  • Research & Innovation

    Epigenetics and mental retardation

    The classic DNA double helix spools around clusters of proteins called histones, whose antenna-like “tails” control access to different genes, extending the genetic code. Now, a team led by Yang Shi, PhD, in the Division of Newborn Medicine, shows that an enzyme that alters histones, known as a histone demethylase, may be a key player in a form of X-linked mental retardation affecting boys.

    The genetic mutation behind the disorder, which also causes craniofacial defects, impairs this enzyme’s function. Modeling the disease in zebrafish, Shi and colleagues show that the enzyme normally works with a genetic partner to keep cells alive during brain development. When it’s mutated, the enzyme can’t sustain the gene’s activity. Brain cells die, and the fish are born without jaws.

    When the enzyme’s activity was restored, brain cells survived and jaws were normal. It’s hard to judge a fish’s intelligence, but the researchers speculate that targeting this enzyme might also reverse cognitive impairment in X-linked mental retardation. (Nature online, July 11)

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