Cephalic Disorders

What are cephalic disorders?

Cephalic disorders are conditions that happen when the brain and spinal cord of a fetus don’t develop correctly. This results in malformations of these parts of the nervous system. Cephalic disorders can also involve malformations of other body parts, organs and systems.

These conditions vary from minor to very severe. In the most severe cases, a fetus can’t survive the effects of these conditions. It can lead to a miscarriage (before 20 weeks of pregnancy) or stillbirth (at or after 20 weeks of pregnancy).

The term “cephalic” comes from an ancient Greek word that means “head.” Cephalic disorders mainly involve the brain but also affect the spinal cord because they develop together. Together, these make up your central nervous system (CNS).

Are there different types of cephalic disorders?

Experts organize cephalic disorders into different categories based on three criteria:

• Location: What part(s) of the CNS does the disorder affect? Does it affect any other body parts, organs or systems?
• Effect: How did the affected part(s) of the CNS develop differently than expected? Is it larger or smaller than expected, or is it another kind of difference?
• Cause: What’s responsible for the disruption in development? Did it happen because of an event or environmental factor that affected the person who is pregnant, or is it genetic?

How common are cephalic disorders?

Cephalic disorders are very rare. They affect between 0.14% and 0.16% of newborns. Available research shows that these disorders make up between 3% and 6% of stillbirth cases.

What are the different cephalic disorders?

Cephalic disorders tend to come in three types:

• Neural tube defects.
• Size differences.
• Shape differences.

Neural tube defects

The “neural tube” is the term for a structure that develops in a fetus within the first month of pregnancy. It contains the structures that will eventually develop into the brain, spinal cord and spine. That’s why neural tube-related conditions affect how the CNS itself develops.

These conditions may cause certain steps in brain or spinal cord formation to happen incorrectly or not at all. Examples of these conditions include, but aren’t limited to:

• Anencephaly: Little or no development of most parts of the brain and skull.
• Acephaly: Lack of a head because it didn’t develop.
• Acrania: Lack of skull and scalp because they didn’t develop.
• Amyelencephaly: Lack of brain and spinal cord because they didn’t develop.
• Chiari malformation: The brain pushes down through the hole at the bottom of the skull (type II malformation causes myelomeningocele, a type of spina bifida).
• Encephalocele: A gap in the skull allows brain tissue and cerebrospinal fluid to form a sac-like bulge outside the skull.
• Hemianencephaly: Only one side of the brain develops.
• Hemicephaly: The cerebrum (forebrain) doesn’t develop with the rest of the brain.
• Iniencephaly: The spine doesn’t form correctly, and it can make it look like there’s no neck between the head and torso.
• Spina bifida: Incomplete spine development, including the conditions meningocele and myelomeningocele.

Size differences

These are differences in the head or central nervous system that affect their size. Skull size differences can include:

• Macrocephaly: Having an unusually large head.
• Microcephaly: Having an unusually small head.

Brain size differences can include:

• Megalencephaly: Having an unusually large brain.
• Microencephaly: Having an unusually small brain.

Shape differences

Skull shape differences can include:

• Acrocephaly: Causes a taller or dome-shaped skull.
• Brachycephaly: The head is wider and flatter at the back instead of round.
• Scaphocephaly: The head looks elongated when seen from the top.
• Trigonocephaly: The forehead looks angular, like the keel of a ship.
• Turricephaly: The head looks tall vertically but is narrow and short when viewed from the top.

Brain shape differences can include:

• Agenesis of the corpus callosum: Lack of a corpus callosum, a structure that links the two sides of the brain and allows communication between them.
• Colpocephaly: When fluid-filled spaces in the brain called ventricles are larger than normal, crowding the brain.
• Holoprosencephaly: The hemispheres (sides) of the brain don’t separate.
• Hydranencephaly: The brain’s hemispheres don’t develop because too much cerebrospinal fluid in the skull keeps them from forming like they should (this isn’t the same as hydrocephalus).
• Lissencephaly: Smooth brain with no wrinkles or grooves on the brain’s outer surface.
• Porencephaly: Fluid-filled cysts that develop in and on the brain.

What are the symptoms of cephalic disorders?

The symptoms of cephalic disorders depend on the specific condition. And because there are so many cephalic disorders, the symptoms can vary widely.

Some of the most common symptoms that are possible include:

• Intellectual disabilities.
• Seizures or epilepsy.
• Muscle control problems and movement disorders.
• Partial or total lack of sensory abilities (vision, hearing, smell, taste and touch).
• Weakness or paralysis because of problems with the spinal cord or spinal nerves.
• Trouble with automatic body processes like digestion, breathing, etc.
• Pain (this can happen for countless reasons and can vary from person to person).

In addition to nervous system-related malformations, other body systems might also have malformations or issues. These depend greatly on the cause and condition involved. A healthcare provider can better explain the possible or likely symptoms in your specific situation.

What can cause cephalic disorders?

Anything that affects the way the brain or nervous system develops can cause a cephalic disorder. The potential causes tend to fall into a few specific categories:

• Genetics: DNA mutations — either those passed from parent to child, or spontaneous and new — can cause many cephalic disorders.
• Medical conditions a person has while pregnant: A wide range of medical conditions can affect fetal growth. Examples include metabolic diseases and dietary deficiencies (especially minerals like copper and zinc, and vitamin B9, also known as folate or folic acid). Certain infections (such as toxoplasmosis, cytomegalovirus or rubella) can also cause cephalic disorders.
• Exposure to certain substances:Certain substances, medications or environmental conditions can affect how a fetus develops. Experts call these “teratogens.” Examples include toxic metals like lead or mercury, or certain medications like antibiotics or blood thinners.
• Environmental conditions:Environmental effects like radiation exposure (such as from X-ray machines) or spending time in a hot tub or sauna can also affect a fetus. Physical injury while pregnant can also increase the risk of an injury to the fetus that could affect nervous system development.

What are the risk factors for cephalic disorders?

The risk factors for cephalic disorders can vary widely. You can’t control some factors, like your genetics and family history. Others are possibly manageable, such as avoiding certain tasks or activities during pregnancy, or limiting what kinds of fish you eat while pregnant (fish that eat other fish contain higher levels of mercury).

Your healthcare provider can help you determine your risk factors and what you can do about them. They may also recommend seeing other experts, such as a genetic counselor, if you have a family history of cephalic disorders.

What are the complications of cephalic disorders?

The complications of cephalic disorders vary just as widely as the disorders themselves. Some of these disorders have only minor complications or none at all. Others have severe complications, such as respiratory issues, seizures or heart problems. In the most severe cases, cephalic disorders prevent critical brain and nervous system development. That’s why severe forms are often not survivable.

Your healthcare provider is the best person to tell you what complications your child might have and what you can do about them.

How are cephalic disorders diagnosed?

Many cephalic disorders are diagnosable before birth using imaging technologies like sonography. Some cephalic disorders are diagnosable visually after birth. In some cases, it may take more diagnostic, imaging and lab testing to diagnose the underlying condition precisely.

Possible tests before and after birth include:

• X-ray or computed tomography (CT) scans.
• Magnetic resonance imaging (MRI) scans.
• Lab testing of blood or other body fluids.
• Genetic testing (either before birth or after).

Other tests might also be possible after birth, depending on the suspected condition, symptoms and more. Your healthcare provider is the best person to tell you more about the tests they recommend.

How are cephalic disorders treated, and are they curable?

The treatments for cephalic disorders can vary widely. Some of these disorders are untreatable, and their effects are so severe that they’re not survivable.

Some of these disorders are treatable with surgery or other techniques. Most cephalic disorders aren’t treatable directly, and the only option is to try to manage the symptoms. That can involve medications, surgeries, assistive devices, corrective braces that you wear, etc.

Because this can vary widely, your healthcare provider is the best person to explain the options for you or your loved one. They can tell you about procedures and treatment options that are available and which ones they recommend. They can also guide you on what your child can do to get the most out of treatment or make it more effective.

Can cephalic disorders be prevented?

Cephalic disorders can happen unpredictably, so it’s impossible to prevent them with 100% certainty. Genetic conditions that cause cephalic disorders are often inherited, but they can also develop from spontaneous mutations, which you didn’t pass on to your child.

While it’s impossible to prevent cephalic disorders entirely, there are things you can do to lower the risk of issues with fetal development during your pregnancy.

How can I lower my risk?

Some ways to reduce the risk of fetal development problems include:

• Avoid teratogens: Steer clear of exposure to heavy metals, chemicals and medications that have a higher risk of disrupting fetal development. This also goes for exposure to alcohol, nonmedical drug use and tobacco products (including vaping).
• Protect yourself from injury: Avoid activities that could cause physical injury to a fetus during pregnancy. You should also avoid temperature-extreme activities like hot tubs and saunas.
• Know your family risk:If you have a history of cephalic disorders, talk to a healthcare provider to learn if they recommend genetic testing before you get pregnant or early in your pregnancy. If you don’t know your family risk, your provider can advise you on whether or not you should get tested.
• Make nutrition a priority: If you could become or plan to get pregnant in the near future, you should make pregnancy nutrition a priority. Make sure to get the recommended amount each day of key nutrients like folate (also known as folic acid or vitamin B9). Your healthcare provider can advise you on the ideal amount and any other nutrients you should take.

What can I expect if I have a cephalic disorder?

In most cases, the first person to learn about your cephalic disorder will be your parent, guardian or another caregiver. That’s because most cephalic disorders are diagnosed soon after birth or in the first few years of life. Because this can vary widely, your healthcare provider is the best person to tell you what you can expect.

What you can expect if you have a cephalic disorder can vary widely. Some cephalic disorders can have only small effects on your life and are manageable with little help or changes. Some are correctable very early in life with surgery or other medical procedures.

However, cephalic disorders often are severe and can reduce your ability to care for or make choices for yourself or live independently. In many cases, people with cephalic disorders have severe brain effects. They might be unable to care for themselves or understand their situation.

How long do cephalic disorders last?

Cephalic disorders are congenital, meaning you have them when you’re born. Some cephalic disorders are partially or totally correctable after birth, but many aren’t. When they aren’t correctable or treatable, they’re lifelong conditions.

What’s the outlook for cephalic disorders?

The outlook for cephalic disorders varies greatly from person to person, even among people with the same condition. That’s because these conditions can happen in ways that are unique to the person who has them. Your child’s healthcare provider is the best person to tell you about the likely outlook and what you can do to improve the outlook.

How do I take care of myself?

Whether or not you can take care of yourself if you have a cephalic disorder depends on many factors. The condition you have, how severe it is and many more factors can contribute to this. For many people with cephalic disorders, the effects are severe enough that they’ll need medical care for the rest of their lives. Some may only need regular medical visits. Others may need 24/7 skilled care that’s only available in a medical facility.

Because the answer can vary so widely, your healthcare provider is the best person to tell you if you can care for yourself or if your loved one with this condition can care for themselves. Your provider can also guide you on how best to care for yourself.

A note from Cleveland Clinic

Expecting parents never want to hear that something might be wrong with how a fetus is developing or that their newborn might have a serious condition. Some cephalic disorders are minor and have little or no effect on your child’s life. Others are treatable. Unfortunately, some are severe enough to be deadly or cause lifelong problems.

It’s normal to feel fear, anxiety or anger if one of these disorders affects your life in some way. Through all this, it’s important to focus on caring for yourself and your loved ones. Your healthcare providers can help guide you through the process and answer questions about what you can expect. They can also help you access resources and support as you learn about what’s happening and what you can do. Regardless of the outcome, there are things you can do to cope, manage or heal from whatever ultimately happens, and it’s a process you don’t have to take on alone.