What are Craniofacial Anomalies?

Craniofacial anomalies (CFA) are a “diverse group of deformities in the growth of the head and facial bones.” (Lucile Packard Children’s Hospital Stanford) CFAs are present at birth and there are numerous variations which can range from mild to severe and which require surgery. These types of anomalies do not have a single factor that causes them. Instead, there are many factors that contribute to the development of CFAs. These factors include a combination of genes that a child receives from one or both parents (or there is a change in the genes at the time of conception); environmental exposures may play a role, especially in combination with genetic abnormalities; and a folic acid deficiency during pregnancy may give a higher risk of having a baby with certain CFAs. Craniofacial anomalies include Apert Syndrome, Cleft lip and/or palate, Crouzon Syndrome, Frontonasal Dysplasia, Hemifacial Microsomia/Goldenhar Syndrome, Pierre Robin Sequence, and Treacher Collins Syndrome. Some people with CFAs can also have intellectual disabilities; hearing loss; and vision, speech, and swallowing problems.

We ran a search in REHABDATA and found several articles. Here are a few that we’d like to share with you:

  • Parameters for Evaluation and Treatment of Patients with Cleft Lip/Palate or Other Craniofacial Anomalies. NARIC Accession Number: O12035.
  • Communication disorders sourcebook. NARIC Accession Number: R07877.

Here are some resources if you, your child, or someone you know has craniofacial anomalies:

  • Cleft Palate Foundation provides information and resources in English and Spanish for parents, individuals, and healthcare professionals. They also provide three college scholarships each year.
  • The National Human Genome Research Institute’s Talking Glossary of Genetic Terms provides information so that everyone can “understand the terms and concepts in genetic research.” Terms include definitions, descriptions of terms shared by specialists in the field of genetics, and many include images, animation, and links.
  • The National Institutes of Health (NIH) have great information related to CFAs. You can also search the NIH website for research trials related to CFAs.
  • Children’s Craniofacial Association provides descriptions of various CFAs, helps raise public awareness of craniofacial conditions, promotes social acceptance of individuals with facial differences, and provides a way for families to network, and find physicians and qualified centers. They provide information services through a toll free hotline (800/535-3643). They also provide informational booklets in English and Spanish (click the appropriate CFA for that anomaly’s booklet, which will be on the upper left hand side of the page).

We’d also like to let you know that September is National Craniofacial Acceptance Month. What are you doing to foster acceptance of people with CFAs? Let us know through Twitter (@NARICInfo and @NARICenEspanol) and on Facebook (NARIC and NARICenEspañol).

About mpgarcia

I'm the Bilingual Information/Media Specialist at NARIC.
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