Table of ContentsView AllTable of ContentsAnencephalyCraniosynostosisEncephaloceleFAQs
Table of ContentsView All
View All
Table of Contents
Anencephaly
Craniosynostosis
Encephalocele
FAQs
Skull birth defects are conditions that are present at birth. These birth defects were created as the fetus was still developing in a pregnant person’s uterus. This overview will discuss three of the most common skull birth defects in babies:anencephaly,craniosynostosis, andencephalocele.
Verywell / Danie Drankwalter
What Is Anencephaly?
The neural tube is formed very early in pregnancy. As it develops and closes, it helps form the brain, skull, spinal cord, and backbone.
Anencephaly develops during the third and fourth weeks of pregnancy, with the body of the fetus continuing to grow and form throughout the pregnancy.
Some risk factors for anencephaly include:
Anencephaly is more common in girls rather than boys.
Anencephaly is associated with these conditions:
Diagnosis
Anencephaly may be diagnosed prenatally using tests and diagnostic tools such as:
Quad marker screen:
Ultrasound:
Fetal magnetic resonance imaging (MRI):
Amniocentesis:
Treatment
There is no treatment for anencephaly. Most pregnancies with anencephaly end in miscarriage or stillbirth. Babies who are born with anencephaly will almost always die within a few hours or a few days.
Folic Acid Can Reduce the Risk of Neural Tube Defects
What Is Craniosynostosis?
Depending on how many sutures are affected and how much room there is, the brain may still grow to its usual size.
Sagittal craniosynostosis:
Coronal craniosynostosis:
Lambdoid craniosynostosis:
Metopic craniosynostosis:
What Is a Metopic Ridge?
If left untreated, craniosynostosis can lead to:
The exact cause of craniosynostosis isn’t known but may be the result of a combination of genes and other factors such as:
Craniosynostosis is usually diagnosed soon after birth, but it may be diagnosed later in life.
During a physical exam, the healthcare professional will look for symptoms such as:
An X-ray or computed tomography (CT) scan may be ordered to help confirm a suspected diagnosis of craniosynostosis.
Treatment depends on the severity of the condition. Some forms of craniosynostosis are mild and require little intervention, while others are more severe and may need more intensive treatments.
Treatments for craniosynostosis may include:
What Is Encephalocele?
Encephalocele is a birth defect that happens when the neural tube does not close completely during pregnancy. Encephalocele occurs in approximately 1 in every 10,500 babies born in the U.S.
The opening can be anywhere along the center of the skull from the nose to the back of the neck, but is usually at the back of the head, at the top of the head, or between the forehead and the nose.
Genetics may play a role in causing an encephalocele. Encephalocele occurs more frequently in families that have a history of neural tube defects (spina bifida and anencephaly).
More research is needed into the causes of encephalocele. As with other neural tube defects, 400 micrograms of folic acid taken daily before and during pregnancy is believed to help prevent encephalocele.
Symptoms and conditions that may occur with encephalocele include:
Encephalocele is usually apparent at birth, but small encephaloceles (usually in the nose, sinuses, or forehead) may not be noticed right away.
Sometimes encephalocele is observed during a prenatal ultrasound. When this happens, fetal magnetic resonance imaging (MRI) may be ordered.
Treatment for encephalocele usually involves surgery (or several surgeries) to place the brain tissue and membranes back into the skull and repair the opening.If needed, ashuntmay be put in to drain cerebrospinal fluid (CSF) from around the brain.
Summary
Anencephaly, craniosynostosis, and encephalocele are three types of skull birth defects. They vary in whether they can be detected before birth, at birth, or later. Anencephaly cannot be treated and is fatal. Encephalocele usually requires surgery to repair. Craniosynostosis may require no intervention or need therapy or surgery.
Frequently Asked Questions
There are many types of birth defects that can cause abnormalities in the skull. Three of the most common are anencephaly, craniosynostosis, and encephalocele.
8 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Centers for Disease Control and Prevention.Anencephaly.Genetic and Rare Diseases Information Center.Isolated anencephaly/exencephaly.Golisano Children’s Hospital.Anencephaly.Flores AL, Cordero AM, Dunn M, et al.Adding folic acid to corn Masa flour: Partnering to improve pregnancy outcomes and reduce health disparities.Prev Med. 2018;106:26-30. doi:10.1016/j.ypmed.2017.11.003Centers for Disease Control and Prevention.Craniosynostosis.Centers for Disease Control and Prevention.Encephalocele.Seattle Children’s Hospital.Encephalocele.Johns Hopkins Medicine.Craniofacial abnormalities.
8 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Centers for Disease Control and Prevention.Anencephaly.Genetic and Rare Diseases Information Center.Isolated anencephaly/exencephaly.Golisano Children’s Hospital.Anencephaly.Flores AL, Cordero AM, Dunn M, et al.Adding folic acid to corn Masa flour: Partnering to improve pregnancy outcomes and reduce health disparities.Prev Med. 2018;106:26-30. doi:10.1016/j.ypmed.2017.11.003Centers for Disease Control and Prevention.Craniosynostosis.Centers for Disease Control and Prevention.Encephalocele.Seattle Children’s Hospital.Encephalocele.Johns Hopkins Medicine.Craniofacial abnormalities.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Centers for Disease Control and Prevention.Anencephaly.Genetic and Rare Diseases Information Center.Isolated anencephaly/exencephaly.Golisano Children’s Hospital.Anencephaly.Flores AL, Cordero AM, Dunn M, et al.Adding folic acid to corn Masa flour: Partnering to improve pregnancy outcomes and reduce health disparities.Prev Med. 2018;106:26-30. doi:10.1016/j.ypmed.2017.11.003Centers for Disease Control and Prevention.Craniosynostosis.Centers for Disease Control and Prevention.Encephalocele.Seattle Children’s Hospital.Encephalocele.Johns Hopkins Medicine.Craniofacial abnormalities.
Centers for Disease Control and Prevention.Anencephaly.
Genetic and Rare Diseases Information Center.Isolated anencephaly/exencephaly.
Golisano Children’s Hospital.Anencephaly.
Flores AL, Cordero AM, Dunn M, et al.Adding folic acid to corn Masa flour: Partnering to improve pregnancy outcomes and reduce health disparities.Prev Med. 2018;106:26-30. doi:10.1016/j.ypmed.2017.11.003
Centers for Disease Control and Prevention.Craniosynostosis.
Centers for Disease Control and Prevention.Encephalocele.
Seattle Children’s Hospital.Encephalocele.
Johns Hopkins Medicine.Craniofacial abnormalities.
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