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Neurology

Cephalic Disorders

credit for this report goes to: Ivillage.com

Reviewed By:
Dongwoo John Chang, M.D.

Summary

Cephalic disorders are conditions affecting the brain and central nervous system of a developing fetus. The severity of the disorder can range from mild to profound. Many of the most severe forms of cephalic disorder are fatal.

Types of cephalic disorders include Anencephaly, Colpocephaly, Holoprosencephaly, Hydranencephaly, Lissencephaly, Megalencephaly, Microcephaly, Porencephaly and Schizencephaly.

In most cases, cephalic disorders are caused by disturbances that occur early in fetal neurological development. A combination of factors can cause cephalic disorders, including hereditary or genetic conditions, and exposures to certain environmental factors, such as medications and environmental toxins (e.g., maternal infections and exposure to radiation).

Signs and symptoms of cephalic disorders vary depending on the nature and severity of the disorders. Mild cases of cephalic disorder produce few if any symptoms. More significant cases of cephalic disorder may result in severe physical abnormalities and profound cognitive impairment. Many children with significant cephalic disorders do not live long, are miscarried or arrive stillborn.

The time at which a specific cephalic disorder can be diagnosed depends on the condition. Some can be diagnosed before a child is born, such as through an ultrasound test. In some cases, parents may choose genetic counseling if they have a family history of certain genetic problems. Others cannot be confirmed until after birth. In some cases, a cephalic disorder may not be identified until symptoms appear a few years after the child is born.

Some cephalic disorders cannot be treated. Prognosis for patients with these disorders is usually poor. In other cases, complications associated with cephalic disorders may be treated with medications or other techniques. Physical therapy and special education can also help some patients with cephalic disorders.

About cephalic disorders

Cephalic disorders are congenital diseases that occur when the developing brain and nervous system of a fetus is abnormal or damaged. A number of factors can cause these conditions to develop, and the severity of the disorder can range from mild to profound. Many of the most severe forms of cephalic disorder are fatal.

“Cephalic” means head or related to the head. During development, the cells that will make up the human brain and spine roll into a cylindrical mass known as the neural tube. This narrow sheath closes sometime during the third or fourth weeks of pregnancy and become the brain and spinal cord.

The development of the nervous system proceeds through four major processes:

Cell proliferation. Nerve cells divide to form new generations of cells.

Cell migration. Nerve cells move to their proper place in the body.

Cell differentiation. Cells acquire individual characteristics.

Cell death. The natural process by which cells dissolve.

Cephalic disorders occur when something goes wrong during this process of development. Chronic and disabling disorders may develop as a result of such abnormalities. The severity of disability depends on the abnormality and can vary tremendously from patient to patient.

Less common Cephalies

Octocephaly. Marked by agnathia, a developmental anomaly characterized by total or virtual absence of the lower jaw. The condition is lethal due to a poorly functioning airway.

Against all odds Read this amazing story about Alan Doherty

Brachycephaly. Diameter of the skull from front to back is shorter.
Definition: Brachycephaly refers to the condition where the head is disproportionately wide. Brachycephaly can result from the premature fusion of the coronal sutures (see Craniosynostosis) or from external deformation (most commonly prolonged lying on the back -- a positional deformity). The head flattens uniformly, causing a much wider and shorter head. Increased head height is also common in children with Brachycephaly.

Brachycephaly--resulting from early closure of the coronal sutures (i.e., Craniosynostosis)--is also present in many syndromal abnormalities, such as Apert, Crouzon, Pfeiffer, Saethre-Chotzen and Carpenters syndromes.

Images of Brachycephaly provided courtesy of Cranial Technologies, Inc.

Incidence:

Diagnosis: The diagnosis begins with an examination by a pediatrician, pediatric neurosurgeon or craniofacial surgeon. A primary objective of the examination is to rule out Craniosynostosis (a condition that requires surgical correction). The initial examination involves questions about gestation, birth, in utero and post-natal positioning (for example, sleeping position). The physical examination includes inspection of the infant's head and may involve palpation (carefully feeling) of the child's skull for suture ridges and soft spots (the fontanelles). The physician may also request x-rays or computerized tomography (a CAT scan, a series of photographic images of the skull). These images provide the most reliable method for diagnosing premature fusion of the coronal sutures (craniosynostosis). In addition, the physician may make (or order) a series of measurements from the child's face and head [more on cranial anthropometry]. These measurements will be used to assess severity and monitor treatment.

Treatment: The treatment of Brachycephaly depends upon the etiology (cause) of the condition:

Brachycephaly resulting from fusion of the coronal sutures (Craniosynostosis) must be treated surgically. Parents should consult a pediatric neurosurgeon or a craniofacial surgeon to discuss treatment option.

Depending upon severity, Brachycephaly resulting from external/positional deformation can be treated with repositioning and/or head banding. Parents should consult a pediatrician, a pediatric neurosurgeon or a craniofacial surgeon for information on repositioning and/or for referral and a prescription for head banding.

Support Groups:

Plagiocephaly Parents Support

CAPPS Kids

CranioChat.org

Apert listserv

Crouzon Support Network

Credit for this information goes to: Plagiocephaly Info

Caphocephaly results from premature sagittal suture synostis.

Oxycephaly. Involves premature closure of the coronal suture that connects the front, top and sides of the skull. Also known as Turricephaly and high-head syndrome, is a type of cephalic disorder. This is a term sometimes used to describe the premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusing of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly is the most severe of the craniostenoses.

For a full report on Oxycephaly

Plagiocephaly. Premature unilateral fusion (joining of one side) of the coronal or lambdoid sutures that connect the top and sides to the back of the skull. (additional info found above under Brachycephaly

Scaphocephaly. Premature fusion of the sagittal suture that connects the sides of the skull.
Definition: Scaphocephaly (also know as, dolichocephaly) refers to the condition where the head is disproportionately long and narrow (see cranial index. Scaphocephaly can result from the premature fusion of the sagittal suture (see craniosynostosis) or from external deformation. Scaphocephaly is particularly common among infants who are born prematurely.

Images of scaphocephaly provided courtesy of Cranial Technologies, Inc.

Incidence:

Diagnosis: The diagnosis begins with an examination by a pediatrician, pediatric neurosurgeon or craniofacial surgeon. A primary objective of the examination is to rule out craniosynostosis (a condition that requires surgical correction). The initial examination involves questions about gestation, birth, in utero and post-natal positioning (for example, sleeping position). The physical examination includes inspection of the infant's head and may involve palpation (carefully feeling) of the child's skull for suture ridges and soft spots (the fontanelles). The physician may also request x-rays or computerized tomography (a CAT scan, a series of photographic images of the skull). These images provide the most reliable method for diagnosing premature fusion of the sagittal suture (craniosynostosis). In addition, the physician may make (or order) a series of measurements from the child's face and head [more on cranial anthropometry]. These measurements will be used to assess severity and monitor treatment.

Treatment: The treatment of scaphocephaly depends upon the etiology (cause) of the condition:

Scaphocephaly resulting from fusion of the sagittal suture (craniosynostosis) must be treated surgically. Parents should consult a pediatric neurosurgeon or a craniofacial surgeon to discuss treatment option.

Depending upon severity, scaphocephaly resulting from external/positional deformation can be treated with repositioning and/or head banding. Parents should consult a pediatrician, a pediatric neurosurgeon or a craniofacial surgeon for information on repositioning and/or for referral and a prescription for head banding.

Credit for this information goes to: Plagiocephaly Info

Trigonocephaly. Premature fusion of the metopic suture (part of the frontal suture that joins the two halves of the frontal bone of the skull).
Trigonocephaly involves fusion of the metopic suture. The metopic suture runs from the top of the head, at the fontanel or soft spot, down the center of the forehead to the nose. It is different from the other sutures of the skull because it is the only one that normally begins closing in infancy. A ridge can easily be seen running down the center of the forehead and the fontanel is usually absent, or closed. In looking straight on at your child, in addition to seeing a ridge running down the center of the forehead, the forehead will look narrow, and the child's eyes are usually spaced closer together than is normal. When viewed from above the forehead has a triangular shape, like the bow of a boat.

The incidence of trigonocephaly is somewhere between one in 2,500 to one in 3,500 births. The reason for this range is that it is sometimes difficult to determine if a child has trigonocephaly or not. Some children may be very mildly affected and do not require treatment. Trigonocephaly has been reported to occur when mothers have taken Valproic Acid for seizures.

Many children may just have a ridge running down the center of their forehead suggesting that the metopic suture has closed early, without producing the triangular-shaped forehead. Only those children who have overt trigonocephaly need treatment. Children with an isolated ridge running down their foreheads do not require surgery (see Publications, Book Chapters #3, 2002). The treatment for this condition is discussed in the treatment section.

Credit for this information goes to: Craniofacial Center

Risk factors and causes of cephalic disorders

In most cases, cephalic disorders result from a disturbance that occurs very early in fetal neurological development. As the nervous system develops, it transforms from a small plate of cells into a neural tube. During the third and fourth weeks of pregnancy, this narrow sheath closes to form the brain and spinal cord.

However, in some cases difficulties arise during this formative period of the nervous system. These can result in cephalic disorders. Such a disorder often occurs as a result of a combination of factors, such as a hereditary or genetic condition. Exposures to certain environmental factors also can contribute to the development of cephalic disorders. For example, certain medications taken by the mother during pregnancy may be a contributing factor. Nutritional deficiencies in the mother may also be a factor. Other environmental factors include toxins, maternal infections and exposure to radiation.

Potential causes of specific cephalic disorders include:

Cephalic Disorder

Potential Causes

Anencephaly

Mother’s diet and vitamin intake

Colpocephaly

Disturbance of the embryo in utero

Holoprosencephaly

Genetic factors

Hydranencephaly

Damage to the vascular system or injuries, infections, traumatic disorders

Iniencephaly

Cause is unknown

Lissencephaly

Infections in mother or fetus, insufficient blood supply to fetus’ brain, genetic factors

Megalencephaly

Disturbance in regulation of cell reproduction or proliferation

Microcephaly

Conditions associated with abnormal brain growth, or from syndromes that cause chromosomal abnormalities

Porencephaly

Absence of brain development, destruction of brain tissue

Schizencephaly

Genetics, environmental exposures during pregnancy, injury to blood vessels

In some cases, cephalic disorders in one child can portend an increased risk of similar disorders in future children of the same parents. For example, if a child is born with an opening in the neural tube such as Anencephaly, subsequent children in the family have up to a 10 percent increase in risk of being born with anencephaly or a similar condition such as Spina Bifida.

Signs and symptoms of cephalic disorders

Signs and symptoms of cephalic disorders vary depending on the nature and severity of the disorder. Mild cases of cephalic disorder may produce few if any symptoms. Patients may have mild facial deformities or slight impairment of cognitive abilities.

More significant cases of cephalic disorder may result in severe physical abnormalities and profound cognitive impairment. In many cases, the embryo or fetus is miscarried. Children with significant cephalic disorders do not live long. For specific signs of cephalic disorders, see the Types and Differences section.

Diagnosis of cephalic disorders

Diagnosis of cephalic disorders varies depending on the condition. Some can be diagnosed before a child is born. For example, ultrasound is often used to diagnose anencephaly prior to birth.
Although ultrasound may indicate a problem, it may not always provide the specificity needed to make a diagnosis. Amniocentesis often can provide more detailed information. In this procedure, a hollow needle is inserted through the abdominal wall into the uterus and a small amount of fluid is withdrawn from the sac surrounding the fetus. This fluid sample is analyzed for genetic abnormalities that may indicate anencephaly, Spina Bifida or other neural tube defects.

Other conditions may not be diagnosed accurately until after the child is born. For example, colpocephaly typically is diagnosed when mental retardation, Microcephaly and seizures are discovered. Diagnosis of Iniencephaly usually is made at birth because the head is clearly and severely retroflexed, causing the face to look upward.

Hydranencephaly and Porencephaly may be diagnosed after birth through a process known as transillumination, in which light is passed through body tissues to confirm the diagnosis.

Diagnosis of several cephalic disorders may be confirmed following birth by ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI).

Treatment and prevention of cephalic disorders

Although cephalic disorders generally cannot be prevented, parents who have prenatal screenings often can learn information that will help them prepare for their child’s condition. Parents with a fetus whose prognosis is extremely poor may consider pregnancy termination. Parents facing such circumstances are urged to discuss their options with a physician.

Some cephalic disorders cannot be treated, such as Anencephaly, Holoprosencephaly, Hydranencephaly and Microcephaly. If the child survives such conditions, care can consist of managing related symptoms. Prognosis for those with these disorders is usually poor.

Some symptoms of these cephalic disorders can be treated with a variety of techniques. For example, hydrocephalus may be treated with a shunt, while anticonvulsant medication may be used to control seizures. Patients who have feeding difficulties may require a gastrostomy tube. Physical therapy and special education also is beneficial for many patients with cephalic disorders.

Experts believe that women of childbearing age who take folic acid can significantly reduce their risk of neural tube defects such as Anencephaly and Iniencephaly. For this reason, organizations such as the National Institute of Neurological Disorders and Stroke recommend that women of childbearing age take 0.4 milligrams of folic acid daily.

Women with diabetes who maintain control of their blood sugar levels during pregnancy may lower the risk of Hydranencephaly in their children.

Questions for your doctor on cephalic disorders

Preparing questions in advance can help parents to have more meaningful discussions with healthcare professionals regarding their child's condition. Parents may wish to ask their doctor the following questions related to cephalic disorders:

Genetic abnormalities run in our family. Do you recommend genetic counseling before trying to conceive?

How accurate are ultrasounds in screening for cephalic disorders?

Should I have an amniocentesis?

If my unborn child has a cephalic disorder, what steps need to be taken to care for my child?

What should I watch for during my child’s early years that might indicate the presence of a cephalic disorder?

What kind of cephalic disorder does my child have?

How serious is the cephalic disorder likely to be?

What types of treatments are available?

What is the long-term prognosis?

If I’ve had a child with a cephalic disorder, what are the odds that this may occur in a future child?

What steps can I take to lower the risk of cephalic disorder in my unborn child?

For more information please visit

NINDS Homepage

*NOTE*

I recently received an email from a mother who's child had a rare disability. She found that some of the cephalic information found was very hard for her to see because she stated it wasn't accurate in her child's case. Here at the Cerebral Palsy Network that is far from our intent to leave our readers feeling there is nothing but a grim outlook for their children. We know that in fact our children are rezealant and know no medical bounds. Anyone who's child may have any of these Cephalies is welcome to send us an email. We would love to share your story.