Cephalic Disorders

These disorders usually occur due to the development problems of the fetus’ central nervous system (CNS). The nervous system consists of the brain and spinal cord. Both parts are essential in how the body works. Cephalic disorders are different from mild to severe and in some circumstances they are deadly. Unfortunately, not all cephalic disorders are treatable.

What are Cephalic Disorders?

These health conditions usually happen when the brain or spinal cord of a fetus develops in the wrong way. As a result, it leads to malformations of these parts of the CNS. Additionally, these disorders can also cause malformations in other parts of the body, organs, and systems. While some cephalic disorders can be mild others are severe. In such cases, a fetus cannot survive the effects. Therefore, the chances that a miscarriage or stillbirth will happen increase.

Cephalic Disorders Types

Healthcare providers classify these conditions into some categories that are based on the following criteria. For example:

  • Cause – Including genetic or environmental factors during pregnancy that provoke these conditions.
  • Effect – How the part of the CNS is developing unusually.
  • Location – What part of the CNS is affected and if any other body parts are impacted?

How Common are Cephalic Disorders?

These health conditions are considered very rare because they impact approximately 0.14%-0.16% of newborns. In addition, roughly 3%-6% of stillbirths occur due to these disorders.

What are the Different Cephalic Disorders?

There are three types of cephalic disorders including neural tube defects, size differences, and shape differences. Check below them in detail:

Neural Tube Defects

This term means a structure that develops in the fetus during the first month of pregnancy. Thereafter, it develops into a brain, spinal cord, and spine. Hence, neural tube-related diseases impact how the central nervous system develops. In such cases, the disorders can provoke some problems in the spinal cord or brain formation that occur unusually or not at all. Check below some examples:

  • Anencephaly – Small or even no development of most parts of the skull and brain.
  • Acephaly – The head does not develop.
  • Acrania – The skull and scalp do not develop.
  • Amyelencephaly – In such cases, there is no spinal cord and brain because they did not develop.
  • Chiari malformations – It happens when the brain pushes down through the hole of the skull. Type II malformations usually provoke a type of spina bifida (myelomeningocele).
  • Encephalocele – Brain tissue and cerebrospinal fluid create a sac-like bulge.
  • Hemianencephaly – In such cases, only one part of the brain develops.
  • Hemicephaly – The forebrain (cerebrum) does not develop with the entire brain.
  • Iniencepahly – It happens when the spine does not develop correctly. In such cases, it looks like there is no neck between the torso and head.
  • Spina bifida – In this case, the spine does not develop completely (such as meningocele and myelomeningocele).

Size Differences

Check below some skull size differences caused by the head or central nervous system development problems:

  • Macrocephaly – an abnormally large head.
  • Microcephaly – an abnormally small head.

Check below some brain size differences:

  • Megalencephaly – unusually large brain
  • Microencephaly – an abnormally small brain

Shape Differences

Check some skull shape differences below:

  • Acrocephaly – A taller skull
  • Brachycephaly – Wider and flatter head
  • Scaphocephaly – In such cases, the head looks like it is elongated
  • Trigonocephaly – Angular forehead
  • Turrinocephaly – When the head is viewed from the top it looks narrow and short

In addition, brain shape differences also may occur. For example:

  • Agenesis of the corpus callosum – There is no developing a structure that links the both brain’s sides.
  • Colpocephaly – Ventricles are larger than normal, which leads to the crowding of the brain.
  • Holoprosencephaly – The brain hemispheres are not separated.
  • Hydranencephaly – There is an increased amount of cerebrospinal fluid in the skull. As a result, the hemispheres of the brain cannot develop.
  • Lissencephaly – In such cases, the brain is smooth without grooves or wrinkles on the surface.
  • Porencephaly – The fluid-filled cysts are developing in and on the brain.

Symptoms

Usually, the symptoms vary among people because it depends on the type and severity of the cephalic disorder. Check below some of the most common symptoms:

  • Intellectual disabilities
  • Seizures or epilepsy
  • Movement disorders (muscle control problems)
  • A lack of sensory abilities (including smell, taste, touch, hearing, or vision)
  • Weakness
  • Paralysis
  • Automatic processes issues (such as digesting, breathing, and others)
  • Pain

Causes

All things that directly or indirectly impact the brain or CNS development provoke cephalic disorders. Check below some potential causes:

  • Environmental conditions – Radiation exposure (such as X-ray machines) and hot tub or sauna are factors that can impact fetus development. Additionally, physical injuries also can increase the fetus’s risk of CNS development problems.
  • Exposure to substances – These include toxic metals (such as lead or mercury) and medicines (such as antibiotics or blood thinners) also can impact fetus development.
  • Health conditions during pregnancy – There are different medical conditions that could negatively affect the fetus’s development. Examples include metabolic diseases and dietary deficiencies (such as copper, zinc, vitamin B9, folate or folic acid, and others). Furthermore, if the birthing parent experiences the following infections they also can provoke cephalic disorders (such as toxoplasmosis, cytomegalovirus, rubella, and others).
  • Genetics – Whether DNA mutations or genes that pass from the biological parent to biological children also can provoke cephalic conditions.

Risk Factors

  • Genetics (family history)
  • Certain activities and tasks during pregnancy
  • Some kind of fish you consume during pregnancy (fish contains high levels of mercury)

Consult with your healthcare professional to determine your risk factors because they may vary among people.

Complications

In some cases, complications are mild or even not at all. However, certain severe complications can happen. Examples include:

  • Respiratory problems
  • Seizures
  • Heart issues
  • The brain and nervous system do not develop

Talk with your doctor if you suspect a cephalic disorder.

Diagnosis

Sonography is an imaging test that commonly helps to diagnose most cephalic disorders. For some disorders, a physical examination after birth is enough to diagnose them. Other tests involved in diagnosis include:

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

Discuss with your healthcare professional for more details.

Treatment

Usually, the cephalic disorder treatment fluctuates widely because it depends on the severity of the condition and other factors. Unfortunately, some of them are so severe that usually are fatal.

However, other cephalic disorders are treatable and involve therapies, surgery, and others. Physicians may also prescribe some medicines, corrective braces, assistive devices, and surgeries to manage the symptoms and improve overall quality of life. Furthermore, you should not use any medicine without a doctor’s recommendation because you may not notice any improvements or even the disorder may worsen.

Frequently Asked Questions

Is it possible to prevent cephalic disorders?

These conditions usually happen suddenly (spontaneously), which makes it impossible to prevent them. However, the tips listed below can help you to reduce the risk of fetal development problems during the pregnancy. Examples include:

  • Avoid teratogens during pregnancy including medicines, chemicals, and heavy metals (such as mercury). In addition, do not consume alcoholic drinks, or over-the-counter medicines, and avoid using tobacco products (such as vaping).
  • Try to protect yourself from injuries because they can cause physical injuries to a fetus. Do not practice activities that potentially could cause injuries.
  • It is recommended to check your family history when you are planning to become pregnant. Therefore, knowing about the risks can prevent future complications.
  • Nutrition should become a priority during pregnancy. For example, include in your diet nutrients such as folate (folic acid or vitamin B9). You can also consult with your doctor about the types and amounts of nutrients you should consume.

How long do cephalic disorders last?

These conditions are congenital (present at birth). There are some cephalic disorders that are treatable and disappear partially or totally after birth. However, most of them are not treatable and are lifelong.

What are the possible cephalic complications?

  • Preterm labor
  • Vaginal bleeding
  • Fetal distress
  • Placental abruption
  • Premature rupture of the membranes

Ask your healthcare provider if you have any other questions.

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