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Cephalic Disorders - Types, Symptoms, Diagnosis, and Treatment

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Cephalic Disorders - Types, Symptoms, Diagnosis, and Treatment

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Cephalic diseases are congenital conditions that affect the nervous system during development. Read the article to learn more about these disorders.

Written by

Dr. Shikha

Medically reviewed by

Dr. Abhishek Juneja

Published At August 3, 2022
Reviewed AtMarch 17, 2023

What Are Cephalic Disorders?

The term "cephalic" denotes "head" or "head end of the body." "Congenital" refers to a condition that exists at or before birth. Cephalic diseases are congenital conditions caused by injury to the developing neural system or abnormal development of the nervous system. The majority of cephalic diseases are caused by a disruption in the embryonic neurological system's development. In newborns, children, and even adults, damage to the growing neurological system is a leading cause of persistent, crippling illnesses. Hereditary or genetic abnormalities and environmental exposures such as exposure to radiation during pregnancy can all affect cephalic diseases. In addition, some cephalic diseases are caused by the early joining of the cranial sutures, which are fibrous joints that link the bones of the skull.

What Are the Different Types of Cephalic Disorders?

  • Anencephaly

    It is a neural tube defect that develops when the neural tube's cephalic (head) end fails to close, mainly between the 23rd to 26th days of pregnancy, leaving a large section of the brain, skull, and scalp missing. The forebrain is the largest area of the brain, comprising primarily the cerebrum, which is responsible for thinking and coordination. Infants with this condition are born without one. The remaining brain tissue, which is not protected by bone or skin, is frequently visible.

    Anencephaly causes infants to be blind, deaf, unconscious, and unable to sense pain. Although some people with anencephaly are born with a rudimentary brainstem, the absence of a functioning cerebrum precludes them from ever achieving consciousness. Breathing and responses to sound or touch are examples of reflex actions. One of the most prevalent abnormalities of the fetal central nervous system is this one.

    Anencephaly has no recognized etiology. Although the mother's nutrition and vitamin intake are thought to play a role, scientists agree that many other factors are at play.

    Anencephaly has no cure or standard therapy, and the outlook for those who suffer from it is bleak. The majority of infants do not survive childhood. If the baby is not stillborn, it will most likely die within hours or days of being born. An ultrasound examination can commonly detect anencephaly before birth.

    Recent research suggests that including folic acid in the diet of women of childbearing age can help to minimize the risk of neural tube abnormalities. As a result, all women of childbearing age should take 0.4 mg of folic acid every day.

  • Holoprosencephaly

    The failure of the prosencephalon (the embryo's forebrain) to develop is referred to as holoprosencephaly. During pregnancy's fifth and sixth weeks, the forebrain and the face begin to develop. Holoprosencephaly occurs when the embryo's forebrain fails to split into bilateral cerebral hemispheres (the left and right halves of the brain), resulting in problems in facial development as well as brain structure and function.

    In cases involving significant brain abnormalities, anomalies are so severe that they are incompatible with life and frequently result in spontaneous intrauterine death at the end of this continuum. Individuals with facial deformities affecting the eyes, nose, and upper lip, but normal or near-normal brain development, are on the other end of the range. Seizures, as well as cognitive impairment and development, are possible side effects.

    Cyclopia is the most severe of the facial deformities (or anomalies), which is defined by the development of a single eye in the space ordinarily occupied by the root of the nose, as well as a missing nose or a nose in the form of a proboscis (a tubular appendage) above the eye. The facial anomaly ethmocephaly is the least common. A proboscis separates narrow-set eyes with an absent nose and microphthalmia with a proboscis (abnormal smallness of one or both eyes). Another facial oddity is cebocephaly, which is defined by a tiny, flattened nose with a single nostril located behind incomplete or underdeveloped, tightly set eyes. The median cleft lip, also known as premaxillary agenesis, is the mildest of the facial deformities.

    Although the reasons for most occurrences of holoprosencephaly are unknown, researchers do know that chromosomal factors account for about half of all cases. Holoprosencephaly has been linked to chromosomal abnormalities such as Patau's syndrome (trisomy 13) and Edwards' syndrome (trisomy 18). Infants born to diabetic moms have a higher risk of developing the condition.

  • Colpocephaly

    It is a condition in which the occipital horns - the posterior or back section of the brain's lateral ventricles expand abnormally. When the white matter in the posterior cerebrum is underdeveloped or does not thicken, this enlargement arises. Microcephaly (abnormally small head) and delayed development characterize colpocephaly. Motor irregularities, muscle spasms, and seizures are all possible symptoms.

    The etiology behind the condition is not known; researchers believe the disease is caused by an intrauterine disturbance that develops between the second and sixth months of pregnancy. Colpocephaly can occur late in pregnancy and is frequently mistaken as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). When indications of microcephaly, poor development, and seizures are present, the condition may be more accurately detected after birth.

    Colpocephaly does not have a specific treatment. Anticonvulsant drugs are used to prevent seizures, and doctors strive to avoid contractures which is shrinkage or shortening of muscles as much as possible. The severity of the accompanying disorders and the degree of aberrant brain development determine the prognosis for people with colpocephaly. Special education is beneficial to some youngsters.

  • Microcephaly

    It is a neurological disease in which a newborn or child's head circumference is smaller than typical for his or her age and gender. Microcephaly can be congenital or develop throughout a child's life. The illness can be caused by a variety of conditions that produce unusual brain growth, as well as syndromes linked to chromosomal abnormalities.

  • Porencephaly

    It is an extremely rare central nervous system condition characterized by a cyst or hollow in one of the brain hemispheres. Cysts and cavities are frequently the remains of destructive lesions, but they can also be the result of aberrant development. The condition can develop before or after delivery.

  • Megalencephaly

    It is also known as macrencephaly, and it is a disorder in which the brain is excessively huge, heavy, and often dysfunctional. The brain weight of a newborn or child is more than usual for his or her age and gender. Head growth can be visible from birth or develop abnormally in the early stage of life.

    There are a few other forms of cephalic disorders, such as lissencephaly, in which there is an absence of normal folds in the brain accompanied by microcephaly; schizencephaly is a rare developmental condition in which the cerebral hemispheres have unnatural slits or clefts, hydrocephalus, which can result in big head size in neonates due to accumulation of cerebrospinal fluid in the brain's ventricles.

What Are the Common Symptoms?

The following symptoms may occur depending on the type of cephalic disorder:

  • Head that is huge or little.

  • Having difficulty swallowing or eating.

  • Muscle tone issues.

  • Paralysis of body parts.

  • Seizures.

  • Fingers or toes that are deformed.

  • Face deformity is commonly observed.

  • Delays in the development of physical ability or language are commonly accompanied by the overall slow growth of the body.

How Is a Cephalic Disorder Diagnosed?

A healthcare provider may evaluate symptoms and medical history and a physical examination of the skull and body to determine a diagnosis. To help determine a diagnosis, you may be referred to a specialist, such as a geneticist. Tests such as a magnetic resonance imaging (MRI) or computed tomography (CT) scan along with a blood test may also be ordered by the healthcare provider.

The size of the head is frequently taken into account while making a diagnosis. A healthcare expert will measure the circumference of your baby's head with a measuring tape. The tape is ideally wrapped around the broadest section of the head, right above the brows. This figure is then compared to traditional growth charts. As a baby grows into a toddler, the size of their head can fluctuate. On every visit to the doctor, a child's head size can be measured to assess if the skull is changing form. Unless there is a reason to maintain track over that age, this continues typically until the child reaches the age of three.

What Is the Treatment for Cephalic Disorders?

The treatment for cephalic diseases varies depending on the type of disorder. Treatment for most cephalic diseases is symptomatic and supportive. Anticonvulsant medicines, shunts, or physical therapy may be used in some circumstances. Language therapy can help with speech. Surgical correction of a malformed skull or face can also be performed.

Conclusion:

Cephalic disorders are yet to be fully understood. Experts believe that genes and events occurring during pregnancy could have a role. Being as healthy as possible, avoiding liquor, cigarettes, and any other harmful substances, and consuming a well-balanced, healthy diet rich in folic acid throughout pregnancy is the best method to try to avoid cephalic problems. Infections or exposure to toxic chemicals should be handled at priority to reduce the chance of any birth abnormalities. Genetic counseling may help you better understand your pregnancy risks in the future.

Frequently Asked Questions

1.

What Causes the Cephalic Disorder?

Cephalic diseases are congenital conditions that affect the nervous system during development. Cephalic disorders are yet to be fully understood. Experts believe that genes and events occurring during pregnancy could have a role. The majority of cephalic diseases are caused by a disruption in the embryonic neurological system's development.

2.

Can Microcephaly Lead To Death?

Microcephaly is a neurological disease in which a newborn or child's head circumference is smaller than typical for his or her age and gender. Microcephaly can be congenital or develop throughout a child's life. The illness can be caused by a variety of conditions that produce unusual brain growth, as well as syndromes linked to chromosomal abnormalities. This condition has only a 10 % chance of fatality.

3.

What Does Cephalic Mean During Pregnancy?

The term "cephalic" denotes "head" or "head end of the body. The ideal position during labor is when the head of the baby is facing the back of the mother with its chin tucked into its chest, and this position is called cephalic during pregnancy.

4.

What Happens When Baby’s Brain Doesn’t Fully Develop?

This condition is called microcephaly and is a neurological disease in which a newborn or child's head circumference is smaller than typical for his or her age and gender. Microcephaly can be congenital or develop throughout a child's life. The illness can be caused by a variety of conditions that produce unusual brain growth, as well as syndromes linked to chromosomal abnormalities.

5.

Where Do We Feel Kicks if the Baby Is Cephalic?

The term "cephalic" denotes "head" or "head end of the body. The ideal position during labor is when the head of the baby is facing the back of the mother with its chin tucked into its chest, and this position is called cephalic during pregnancy. The kick of the baby in this position is felt under the ribs.

6.

Does the Baby Change From the Cephalic Position?

Yes, the position of the baby can change from time to time during pregnancy. Even if the baby is in a cephalic position, the baby may move from it and at times the health care provider may require to nudge the baby into the cephalic position.

7.

Does Cephalic Position Mean a Normal Delivery?

Yes, a cephalic position of the baby is the ideal position a baby has to be in during delivery. When the baby is going to be delivered in a cephalic position, it is called a cephalic presentation and almost 97 % of the deliveries are cephalic.

8.

Is It Painful When the Baby Is Turning Its Head Down?

When the head of the baby is turned down, it is not very painful but is uncomfortable. ECV or the external cephalic version is a gentle massage that can be done to reduce the amount of discomfort when the head of the baby is down.

9.

What Are the Types of Cephalic Disorders?

 - Anencephaly.
 - Holoprosencephaly.
 - Colpocephaly.
 - Microcephaly.
 - Porencephaly.
 - Megalencephaly.

10.

What Are the Complications of Cephalic Disorders?

 - Abnormally large head.
 - Abnormally small head.
 - Trouble while swallowing.
 - Difficulty while eating.
 - Poor muscular tone.
 - Episodes of paralysis.
 - Episodes of seizures.
 - Deformed fingers and toes.
 - Facial deformity.
 - Delay in the development of physical abilities.
 - Delay in learning a language.
Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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