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Baby's skull fusing


Facts about Craniosynostosis | CDC

Craniosynostosis is a birth defect in which the bones in a baby’s skull join together too early. This happens before the baby’s brain is fully formed. As the baby’s brain grows, the skull can become more misshapen.

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What is Craniosynostosis?

Craniosynostosis is a birth defect in which the bones in a baby’s skull join together too early. This happens before the baby’s brain is fully formed. As the baby’s brain grows, the skull can become more misshapen. The spaces between a typical baby’s skull bones are filled with flexible material and called sutures. These sutures allow the skull to grow as the baby’s brain grows. Around two years of age, a child’s skull bones begin to join together because the sutures become bone. When this occurs, the suture is said to “close.” In a baby with craniosynostosis, one or more of the sutures closes too early. This can limit or slow the growth of the baby’s brain.

When a suture closes and the skull bones join together too soon, the baby’s head will stop growing in only that part of the skull. In the other parts of the skull where the sutures have not joined together, the baby’s head will continue to grow. When that happens, the skull will have an abnormal shape, although the brain inside the skull has grown to its usual size. Sometimes, though, more than one suture closes too early. In these instances, the brain might not have enough room to grow to its usual size. This can lead to a build-up of pressure inside the skull.

Types of Craniosynostosis

The types of craniosynostosis depend on what sutures join together early.

  • Sagittal synostosis– The sagittal suture runs along the top of the head, from the baby’s soft spot near the front of the head to the back of the head. When this suture closes too early, the baby’s head will grow long and narrow (scaphocephaly). It is the most common type of craniosynostosis.
  • Coronal synostosis – The right and left coronal sutures run from each ear to the sagittal suture at the top of the head. When one of these sutures closes too early, the baby may have a flattened forehead on the side of the skull that closed early (anterior plagiocephaly). The baby’s eye socket on that side might also be raised up and his or her nose could be pulled toward that side. This is the second most common type of craniosynostosis.
    • Bicoronal synostosis – This type of craniosynostosis occurs when the coronal sutures on both sides of the baby’s head close too early. In this case, the baby’s head will grow broad and short (brachycephaly).
  • Lambdoid synostosis – The lambdoid suture runs along the backside of the head. If this suture closes too early, the baby’s head may be flattened on the back side (posterior plagiocephaly). This is one of the rarest types of craniosynostosis.
  • Metopic synostosis – The metopic suture runs from the baby’s nose to the sagittal suture at the top of the head. If this suture closes too early, the top of the baby’s head shape may look triangular, meaning narrow in the front and broad in the back (trigonocephaly). This is one of the rarest types of craniosynostosis.

Other Problems

Many of the problems a baby can have depend on:

  • Which sutures closed early
  • When the sutures closed (was it before or after birth and at what age)
  • Whether or not the brain has room to grow

Sometimes, if the condition is not treated, the build-up of pressure in the baby’s skull can lead to problems, such as blindness, seizures, or brain damage.

How Many Babies are Born with Craniosynostosis?

Researchers estimate that about 1 in every 2,500 babies is born with craniosynostosis in the United States.1

Causes and Risk Factors

The causes of craniosynostosis in most infants are unknown. Some babies have a craniosynostosis because of changes in their genes. In some cases, craniosynostosis occurs because of an abnormality in a single gene, which can cause a genetic syndrome. However, in most cases, craniosynostosis is thought to be caused by a combination of genes and other factors, such as things the mother comes in contact with in her environment, or what the mother eats or drinks, or certain medications she uses during pregnancy.

CDC, like the many families of children with birth defects, wants to find out what causes these conditions. Understanding the factors that are more common among babies with a birth defect will help us learn more about the causes. CDC funds the Centers for Birth Defects Research and Prevention, which collaborate on large studies such as the National Birth Defects Prevention Study (NBDPS; births 1997-2011), to understand the causes of and risks for birth defects, such as craniosynostosis.

Recently, CDC reported on important findings from research studies about some factors that increase the chance of having a baby with craniosynostosis:

  • Maternal thyroid disease ― Women with thyroid disease or who are treated for thyroid disease while they are pregnant have a higher chance of having an infant with craniosynostosis, compared to women who don’t have thyroid disease. 2
  • Certain medications ― Women who report using clomiphene citrate (a fertility medication) just before or early in pregnancy are more likely to have a baby with craniosynostosis, compared to women who didn’t take this medicine.3

CDC continues to study birth defects, such as craniosynostosis, and how to prevent them. If you are pregnant or thinking about becoming pregnant, talk with your doctor about ways to increase your chances of having a healthy baby.

Diagnosis

Craniosynostosis usually is diagnosed soon after a baby is born. Sometimes, it is diagnosed later in life.

Usually, the first sign of craniosynostosis is an abnormally shaped skull. Other signs may include:

  • No “soft spot” on the baby’s skull
  • A raised firm edge where the sutures closed early
  • Slow growth or no growth in the baby’s head size over time

Doctors can identify craniosynostosis during a physical exam. A doctor will feel the baby’s head for hard edges along the sutures and unusual soft spots. The doctor also will look for any problems with the shape of the baby’s face. If he or she suspects the baby might have craniosynostosis, the doctor usually requests one or more tests to help confirm the diagnosis. For example, a special x-ray test, such as a CT or CAT scan, can show the details of the skull and brain, whether certain sutures are closed, and how the brain is growing.

Treatments

Many types of craniosynostosis require surgery. The surgical procedure is meant to relieve pressure on the brain, correct the craniosynostosis, and allow the brain to grow properly. When needed, a surgical procedure is usually performed during the first year of life. But, the timing of surgery depends on which sutures are closed and whether the baby has one of the genetic syndromes that can cause craniosynostosis.

Babies with very mild craniosynostosis might not need surgery. As the baby gets older and grows hair, the shape of the skull can become less noticeable. Sometimes, special medical helmets can be used to help mold the baby’s skull into a more regular shape.

Each baby born with craniosynostosis is different, and the condition can range from mild to severe. Most babies with craniosynostosis are otherwise healthy. Some children, however, have developmental delays or intellectual disabilities, because either the craniosynostosis has kept the baby’s brain from growing and working normally, or because the baby has a genetic syndrome that caused both craniosynostosis and problems with how the brain works. A baby with craniosynostosis will need to see a healthcare provider regularly to make sure that the brain and skull are developing properly. Babies with craniosynostosis can often benefit from early intervention services to help with any developmental delays or intellectual problems. Some children with craniosynostosis may have issues with self-esteem if they are concerned with visible differences between themselves and other children. Parent-to-parent support groups also can be useful for new families of babies with birth defects of the head and face, including craniosynostosis.

Other Resources

The views of these organizations are their own and do not reflect the official position of CDC.

  • Children’s Craniofacial Association (CCA)
    CCA addresses the medical, financial, psychosocial, emotional, and educational concerns relating to craniofacial conditions.
  • The National Craniofacial Association (FACES)
    FACES is dedicated to assisting children and adults who have craniofacial disorders resulting from disease, accident, or birth.

References

  1. Boulet SL, Rasmussen SA, Honein MA. A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet Part A. 2008;146A:984–991.
  2. Rasmussen SA, Yazdy MM, Carmichael SL, Jamieson DJ, Canfield MA, Honein MA. Maternal thyroid disease as a risk factor for craniosynostosis. Obstet Gynecol. 2007;110:369-377.
  3. Reefhuis J, Honein MA, Schieve LA, Rasmussen SA, and the National Birth Defects Prevention Study. Use of clomiphene citrate and birth defects, National Birth Defects Prevention Study, 1997–2005. Hum Reprod. 2011;26:451–457.

The images are in the public domain and thus free of any copyright restrictions. As a matter of courtesy we request that the content provider (Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities) be credited and notified in any public or private usage of this image.

The images are in the public domain and thus free of any copyright restrictions. As a matter of courtesy we request that the content provider (Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities) be credited and notified in any public or private usage of this image.

Craniosynostosis - Symptoms and causes

Overview

Cranial sutures and fontanels

Joints made of strong, fibrous tissue (cranial sutures) hold the bones of your baby's skull together. The sutures meet at the fontanels, the soft spots on your baby's head. The sutures remain flexible during infancy, allowing the skull to expand as the brain grows. The largest fontanel is at the front (anterior).

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Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a disorder present at birth in which one or more of the fibrous joints between the bones of your baby's skull (cranial sutures) close prematurely (fuse), before your baby's brain is fully formed. Brain growth continues, giving the head a misshapen appearance.

Usually, during infancy the sutures remain flexible, allowing a baby's skull to expand as the brain grows. In the front of the skull, the sutures meet in the large soft spot (fontanel) on top of the head. The anterior fontanel is the soft spot felt just behind a baby's forehead. The next largest fontanel is at the back (posterior). Each side of the skull has a tiny fontanel.

Craniosynostosis usually involves premature fusion of a single cranial suture, but it can involve more than one of the sutures in a baby's skull (multiple suture craniosynostosis). In rare cases, craniosynostosis is caused by certain genetic syndromes (syndromic craniosynostosis).

Treating craniosynostosis involves surgery to correct the shape of the head and allow for brain growth. Early diagnosis and treatment allow your baby's brain adequate space to grow and develop.

Although neurological damage can occur in severe cases, most children develop as expected in their ability to think and reason (cognitive development) and have good cosmetic results after surgery. Early diagnosis and treatment are key.

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Symptoms

The signs of craniosynostosis are usually noticeable at birth, but they become more apparent during the first few months of your baby's life. Signs and severity depend on how many sutures are fused and when in brain development the fusion occurs. Signs and symptoms can include:

  • A misshapen skull, with the shape depending on which of the sutures are affected
  • Development of a raised, hard ridge along affected sutures, with a change in the shape of the head that's not typical

Types of craniosynostosis

There are several types of craniosynostosis. Most involve the fusion of a single cranial suture. Some complex forms of craniosynostosis involve the fusion of multiple sutures. Multiple suture craniosynostosis is usually linked to genetic syndromes and is called syndromic craniosynostosis.

The term given to each type of craniosynostosis depends on what sutures are affected. Types of craniosynostosis include:

  • Sagittal (scaphocephaly). Premature fusion of the sagittal suture that runs from the front to the back at the top of the skull forces the head to grow long and narrow. This head shape is called scaphocephaly. Sagittal craniosynostosis is the most common type of craniosynostosis.
  • Coronal. Premature fusion of one of the coronal sutures (unicoronal) that run from each ear to the top of the skull may cause the forehead to flatten on the affected side and bulge on the unaffected side. It also leads to turning of the nose and a raised eye socket on the affected side. When both coronal sutures fuse prematurely (bicoronal), the head has a short and wide appearance, often with the forehead tilted forward.
  • Metopic. The metopic suture runs from the top of the bridge of the nose up through the midline of the forehead to the anterior fontanel and the sagittal suture. Premature fusion gives the forehead a triangular appearance and widens the back part of the head. This head shape is also called trigonocephaly.
  • Lambdoid. Lambdoid synostosis is a rare type of craniosynostosis that involves the lambdoid suture, which runs along the back of the head. It may cause one side of a baby's head to appear flat, one ear to be higher than the other ear and tilting of the top of the head to one side.

Other reasons for a misshapen head

A misshapen head doesn't always indicate craniosynostosis. For example, if the back of your baby's head appears flattened, it could be the result of spending too much time lying on one side of the head. This can be treated with regular position changes, or if significant, with helmet therapy (cranial orthosis) to help reshape the head to a more balanced appearance.

When to see a doctor

Your health care provider will routinely monitor your child's head growth at well-child visits. Talk to your pediatrician if you have concerns about your baby's head growth or shape.

Request an appointment

Causes

Often the cause of craniosynostosis is not known, but sometimes it's related to genetic disorders.

  • Nonsyndromic craniosynostosis is the most common type of craniosynostosis. Its cause is unknown, although it's thought to be a combination of genes and environmental factors.
  • Syndromic craniosynostosis is caused by certain genetic syndromes, such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome, which can affect a baby's skull development. These syndromes usually also include other physical features and health problems.

Complications

If untreated, craniosynostosis may cause, for example:

  • Permanently misshapen head and face
  • Poor self-esteem and social isolation

The risk of increased pressure inside the skull (intracranial pressure) from simple craniosynostosis is small if the suture and head shape are fixed surgically. But babies with an underlying syndrome may develop increased intracranial pressure if their skulls don't expand enough to make room for their growing brains.

If untreated, increased intracranial pressure can cause:

  • Developmental delays
  • Cognitive impairment
  • Blindness
  • Seizures
  • Headaches

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Surgical treatment of craniosynostosis and congenital anomalies of the face and skull

Craniosynostosis is a birth defect in which one or more of the sutures between your baby's skull bones close prematurely—before your baby's brain is fully formed.

The growth of the brain continues, giving the head a deformed appearance. As a rule, the child normally has an anterior fontanel - a soft spot you feel just behind your baby's forehead.

The next largest is the posterior-posterior fontanelle. Each side of the skull has tiny fontanelles on the sides.

Craniosynostosis involves early fusion of a single cranial suture, but may involve more than one suture in your child's skull and is characterized as multiple.

In rare cases, craniosynostosis is caused by certain genetic syndromes.
Treatment includes surgery to correct the shape of the skull. Early diagnosis and timely medical intervention creates sufficient space for the brain to grow and develop. Although neurological damage can occur in severe cases, most children have normal cognitive development and the ability to achieve good cosmetic results after surgery.

Early diagnosis and treatment are key.

Signs of craniosynostosis are usually noticeable at birth, but they will become more apparent during the first few months of life. Signs and severity depend on how many sutures are fused and when the fusion occurs during brain development.

These may include:

  • Deformed skull, shaped depending on which of the sutures is affected.
  • Poor feeling or disappearance of the fontanel on your child's skull.
  • Development of a raised, hard bump along the affected sutures.
  • Slow head growth.


There are several types of craniosynostosis. Most of them are associated with the fusion of one cranial suture. Some complex shapes involve merging multiple seams. Most cases of multiple suture craniosynostosis are associated with genetic syndromes and are referred to as craniosynostosis syndrome. The term given to each type depends on which sutures are affected.

Types of craniosynostosis include:

Scaphocephaly

Premature fusion of the sagittal suture that runs from front to back at the top of the skull causes the head to grow long and narrow. Sagittal craniosynostosis results in a form called scaphocephaly and is the most common type of craniosynostosis.

Plagiocephaly

Premature fusion of one of the coronal sutures (unicoronal). They run from each ear to the top of the skull. May result in a flattening of the forehead on the affected side and a bulge on the unaffected side. This also results in a twisting of the nose and a raised eye socket on the affected side.

When both coronal sutures fuse prematurely (bicoronal synostosis), the head has a short and broad appearance, often with a forward slope of the forehead.


Trigonocephaly

Early fusion of the metopic suture. It runs from the top of the bridge of the nose
up through the middle of the forehead to the anterior fontanelle and to the sagittal suture.

Premature fusion of it gives the forehead a triangular appearance and widens the back of the head.

Lambdoid.

Lambdoid synostosis is a rare type that includes suture
running along the back of the head. This can cause one side of your child's head to appear flat, with one ear higher than the other, with the top of the head tilted to one side.

Other causes of head deformity:

A deformed head does not always indicate craniosynostosis. For example, if the back of the head appears flattened, this may be the result of the child lying on one side for a long time. Positional plagiocephaly. This can be treated with regular changes in position, or with a special helmet (cranial orthosis).

Often the cause of craniosynostosis is not known, but sometimes it is associated with genetic disorders.

Non-syndromic is the most common type and its cause is unknown, although it is thought to be a combination of genetic and environmental factors. Syndromic - caused by certain genetic syndromes, such as: Apert, Pfeiffer or Cruson, which can affect the development of the skull. These syndromes usually also include other physical features and health problems.

If left untreated, craniosynostosis can lead to permanent deformity of the head and face, poor self-esteem, and later social isolation.

Learn more