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Cephalic Disorders

(Disorders of Head Size)

Cephalic disorders affect the central nervous system as it develops. They may also affect the brain and the growth of the skull. These disorders can cause a variety of developmental delays, physical handicaps, and threats to a child’s life. Cephalic disorders, which may also be called neurodevelopmental disorders, begin early in a baby’s development during pregnancy.

One of the most noticeable signs of a cephalic disorder is a head of an unusual size or shape. Problems caused by cephalic disorders are most likely when the head is much smaller or larger than the average for a child’s age.

Facts about cephalic disorders

The effect of any given disorder on a specific child may be mild or severe, depending on the parts of the brain and central nervous system affected. Many people with cephalic disorders live relatively normal lives, but some cephalic disorders are so severe that a baby will die within weeks or months of birth.

Types of cephalic disorders

Here are several types of cephalic disorders:

  • Anencephaly. This disorder occurs when the top of the neural tube doesn’t close during the development of the fetus. This results in a baby developing without the forebrain. The baby may be born without any skull covering the remaining brain. Babies with this defect often die within days of birth.

  • Holoprosencephaly. During development in the womb, the brain grows into one single lobe instead of two. There are varying grades of severity ranging from severe abnormalities with limited function, to very mild abnormalities with the ability to lead a relatively normal life. Many babies with the severe form of this disorder die before or soon after birth. Others may live but may have severely deformed faces.

  • Hydranencephaly. Babies born with this disorder have pockets of cerebrospinal fluid in the place of the two separate lobes of the brain. They may appear normal at birth, but within a few months become irritable and do not develop along a normal timeline.

  • Hydrocephalus. Not really a cephalic disorder, hydrocephalus can cause a large head size because of the buildup of cerebrospinal fluid in the ventricles of the brain. Because the skull plates in neonates and infants have not yet fused, there is little to prevent the head from enlarging significantly with increased internal pressure. Hydrocephalus is caused by either production of too much fluid, poor resorption of the fluid produced, or an obstruction along the normal pathway of fluid flow in the brain. These children usually require placement of a shunt to drain the excess fluid.

  • Lissencephaly. This disorder occurs because brain cells called neurons do not go to the right location to help the baby’s brain develop. This results in an unusual brain formation and an extremely small head, as well as other physical deformities in the face, hands, and other body parts.

  • Microcephaly. This is a disorder in which the head is much smaller than average. Many children with smaller than average heads have normal intelligence and develop correctly. But this condition may be associated with cerebral palsy, Down syndrome, poor motor skills, lack of balance and coordination, and difficulty thinking and learning as expected for the child’s age. Other birth defects, such as lissencephaly or porencephaly, also have microcephaly as a symptom.

  • Macrencephaly. Also called megalencephaly, this is a disorder in which the head is much larger than average. It occurs more often in boys than girls. The large head size may be caused by a brain that grows unusually large and heavy. It often causes seizures, developmental delays, partial paralysis, and other motor difficulties. Children with this disorder may have an unbalanced face. It is also related to the cephalic disorder called porencephaly.

  • Porencephaly. During development, a pocket of cerebrospinal fluid forms in the baby’s brain, causing this cephalic disorder. This is thought to be related to an infection, either in utero or the neonatal period. Some children with this disorder have normal intelligence and few if any developmental problems, but others die within a few years of life.

  • Schizencephaly. This rare cephalic disorder results from clefts forming in one or both hemispheres of the brain. Impairment is related to the number and location of the clefts. Some people with this disorder lead relatively normal lives, but others may have severe developmental delays or seizures.

Symptoms

Symptoms vary depending on the type of cephalic disorder, but may include:

  • Unusually large or small head

  • Difficulty swallowing or eating

  • Poor muscle tone

  • Paralysis

  • Seizures

  • Deformed fingers or toes

  • Deformed face

  • Delays in the development of physical abilities or language

  • Delayed growth

Diagnosis

In order to make a diagnosis, the doctor may consider symptoms and medical history, and perform a physical examination of the skull and body. The doctor may also order tests:

  • Blood tests

  • CT scan or MRI scans

Head size is often considered during diagnosis. A doctor will use a measuring tape to measure the circumference of the head. That is the distance around the head. The tape is usually placed just above the eyebrows and around the widest part of the head. This number is compared with standard growth charts.

Head size can change as a baby grows into a toddler or young child. Measurement of head size may be done at every well check or office visit in order to find out whether the head is changing shape. This usually continues until age 3, unless there is a reason to keep track past that age.

When to call a doctor

Some cephalic disorders are clearly present from birth. Others are not. Call your doctor if you have concerns about your child’s ability to meet milestones as expected, such as starting to roll over, crawl, walk, or speak at the expected age. Also call if you are concerned about the shape of your child’s face or head.

Treatment

Treatment for cephalic disorders depends on the type of disorder. Treatments may include:

  • Physical therapy for motion

  • Speech therapy for language

  • Medication, such as anti-seizure drugs, for symptoms

  • Shunts to drain excess fluid off the brain

  • Surgery to correct a deformed skull or face

Prevention

The true cause of cephalic disorders is not fully known. Experts believe that genes may be a factor. At the same time, events during a woman’s pregnancy, such as having an infection or being exposed to toxic chemicals, may also play a role.

Women have the best chance of preventing cephalic disorders by trying to be as healthy as possible throughout their pregnancy. This means avoiding illicit drugs, alcohol, and cigarettes, and eating a varied, healthy diet. Getting enough folic acid has been shown to reduce the risk for certain birth defects, including some cephalic disorders. Many women, however, take good care of themselves during pregnancy and still give birth to a child with a cephalic disorder.