Craniosynostosis

What Is Craniosynostosis?

Craniosynostosis is a condition in which the bones in an infant’s skull grow together too early, causing problems with brain growth and head shape. The edges of the skull bones are called sutures, which normally close by age 2 to 3. With craniosynostosis, the head stops growing in the areas where the sutures have fused, and expands abnormally in other areas.

Craniosynostosis can occur by itself or as a part of certain craniofacial (head and facial) syndromes. If left untreated, craniosynostosis can lead to serious complications, including:

  • Head deformity, possibly severe and permanent
  • Increased pressure on the brain
  • Seizures
  • Developmental delay

What Causes Craniosynostosis?

Craniosynostosis usually occurs randomly for unknown reasons. However, some types can be associated with genetic disorders such as:

  • Crouzon syndrome: Premature fusion of both coronal (ear-to-ear) sutures
  • Carpenter syndrome: Premature fusion of sagittal (top of head, front to back) and both coronal (ear-to-ear) sutures, also abnormal growth of fingers and toes
  • Saethre-Chotzen syndrome: Premature fusion of both coronal (ear-to-ear) and lambdoid (back of head) sutures
  • Pfeiffer syndrome: Premature fusion of sagittal (top of head, front to back), coronal (ear-to-ear), and sagittal (top of head, front to back) sutures

Types of Craniosynostosis

There are several different types of craniosynostosis, and the three main categories are:

Scaphocephaly:

  • Most common type
  • Closing of the suture that runs down the middle of the top of the head
  • Long, narrow head growth, often causing a broad forehead
  • More common in boys than girls

Plagiocephaly

  • Next most common type
  • Closing of a suture that runs from the top of the head toward either ear
  • Uneven brow and forehead growth on one side
  • More common in girls than boys

Read more about plagiocephaly.

Trigonocephaly:

  • Rare type
  • Closing of the suture that runs from the top of the head through the forehead
  • Pointed forehead growth, from mild to severe
  • More common in boys than girls

Symptoms of Craniosynostosis

The most noticeable symptom your baby may have is an abnormally shaped head or face. Other symptoms in newborns, infants, and young children happen because of increased pressure inside the skull, including:

  • Missing, full, or bulging "soft spot" (fontanel) on the newborn's skull
  • Bony ridges along the affected sutures
  • Facial abnormalities including flattened forehead and brow on one side, pointed forehead, or close-set eyes
  • Prominent blood vessels in the scalp
  • Poor feeding or projectile vomiting
  • Bulging eyes
  • Seizures

How Is Craniosynostosis Diagnosed?

Often, your pediatrician can diagnose craniosynostosis by examining and measuring your baby’s skull. Further tests to confirm a diagnosis and check for related disorders include:

  • X-rays to check for fused (missing) sutures or ridges along sutures
  • Diagnostic imaging, especially CT scans, also to check for fused sutures or ridges along sutures
  • Genetic tests to check for syndromes that cause craniosynostosis

Treatments for Craniosynostosis

Treatment goals focus on relieving pressure inside the head, ensuring enough room for the brain to grow, and correcting skull and facial deformities. At Children’s National, we may recommend one or more of the following treatment options:

  • Surgery before age 1, while the skull bones are relatively soft
    • Minimally invasive surgery for infants younger than 3 months to open skull sutures for normal skull and brain growth
    • Traditional surgery for infants 6 months or older to correct the skull’s shape
  • Cranial (skull) molding using helmets to reshape the skull
Prevention & Risk Treatment

Prevention & Risk Treatment

What causes craniosynostosis?

Craniosynostosis occurs in one out of 2,000 live births and affects males slightly more often than females.

Craniosynostosis is most often sporadic (occurs by chance). In some families, craniosynostosis is inherited in one of two ways:

  • Autosomal recessive. Autosomal recessive means that two copies of the gene are necessary to express the condition, one inherited from each parent, who are obligate carriers. Carrier parents have a one in four, or 25 percent, chance with each pregnancy, to have a child with craniosynostosis. Males and females are equally affected.
  • Autosomal dominant.Autosomal dominant means that one gene is necessary to express the condition, and the gene is passed from parent to child with a 50/50 risk for each pregnancy. Males and females are equally affected.

Craniosynostosis is a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present. It is important for the child as well as family members to be examined carefully for signs of a syndromic cause (inherited genetic disorder) of craniosynostosis such as limb defects, ear abnormalities, or cardiovascular malformations.

What are the different types of craniosynostosis?

There are numerous types of craniosynostosis. Different names are given to the various types, depending on which suture, or sutures, are involved, including the following:

  • Plagiocephaly. Plagiocephaly involves fusion of either the right or left side of the coronal suture that runs from ear to ear. This is called coronal synostosis and it causes the normal forehead and the brow to stop growing. Therefore, it produces a flattening of the forehead and the brow on the affected side, with the forehead tending to be excessively prominent on the opposite side. The eye on the affected side may also have a different shape. There may also be flattening of the back area (occipital). Unilateral lambdoidal suture synostosis may cause plagiocephaly, as well.
  • Deformational (or positional) plagiocephaly refers to the misshapen (asymmetrical) head from repeated pressure to the same area of the head. This is not a true synostosis. It can result when the part of the skull (occipital bone) that is dependent (in one position) flattens out due to pressure, as when sleeping on that part of the skull.
  • The number of infants with deformational plagiocephaly has risen over the past several years. This increase may be the result of the "Back to Sleep" campaign promoted by the American Academy of Pediatrics (AAP) to help prevent sudden infant death syndrome (SIDS), but other factors can cause this type of plagiocephaly. Specific treatment will be determined by your child's health care provider based on the severity. Deformational plagiocephaly is treated by altering the child's usual position of sleep or using a specially molded helmet which will reshape the head over time. The AAP recommends supervised tummy time if an infant is awake to help prevent positional plagiocephaly.
  • Trigonocephaly. Trigonocephaly is a fusion of the metopic (forehead) suture. This suture runs from the top of the head down the middle of the forehead, toward the nose. Early closure of this suture may result in a prominent ridge running down the forehead. Sometimes, the forehead looks quite pointed, like a triangle, with closely placed eyes (hypotelorism).
  • Scaphocephaly. Scaphocephaly is an early closure of fusion of the sagittal suture. This is the most common type of synostosis. This suture runs front to back, down the middle of the top of the head. This fusion causes a long, narrow skull. The skull is long from front to back and narrow from ear to ear.

What are the symptoms of craniosynostosis?

In infants with this condition, changes in the shape of the head and face may be noticeable and are generally the first and only symptom. The appearance of the child's face may not be the same when compared to the other side. Another sign is small or absent fontanelle. Less commonly, synostosis can cause increased pressure within the skull. This is especially true when multiple cranial sutures are fused prematurely. In infants with this condition, changes in the shape of the head and face may be noticeable and are generally the first and only symptom. The appearance of the child's face may not be the same when compared to the other side. Another sign is small or absent fontanelle. Less commonly, synostosis can cause increased pressure within the skull. This is especially true when multiple cranial sutures are fused prematurely. Symptoms of increased pressure in the skull include:

  • Full or bulging fontanelle (soft spot located on the top of the head)
  • Sleepiness (or less alert than usual)
  • Scalp veins may be very noticeable
  • Increased irritability
  • High-pitched cry
  • Poor feeding
  • Projectile vomiting
  • Increasing head circumference
  • Seizures
  • Bulging eyes and an inability of the child to look upward with the head facing forward
  • Developmental delays

The symptoms of craniosynostosis may resemble other conditions or medical problems. Always consult your child's doctor for a diagnosis.

Diagnosis

Diagnosis

How is constipation diagnosed?

A health care provider will examine your child and get a complete medical history. Depending on the age of your child, you might be asked questions such as:

  • How old was your baby when he or she had their first stool?
  • How often does your child have a bowel movement?
  • Does your child complain of pain when he or she has a bowel movement?
  • Have you been trying to toilet train your toddler recently?
  • What does your child's diet consist of?
  • Have there been any stressful events in your child's life lately?
  • How often does your child soil his or her pants?

Occasionally, in addition to a physical examination, your child's health care provider may want to perform other diagnostic tests to determine if there are any problems. These tests may include:

  • Digital rectal examination (DRE). In this procedure, a doctor or other health care provider inserts a gloved finger into the rectum to feel for anything unusual or abnormal.
  • Abdominal X-ray. A diagnostic test to evaluate the amount of stool in the large intestine.
  • Barium enema. A procedure done to examine the large intestine for abnormalities. A fluid called barium (a metallic, chemical, chalky liquid used to coat the inside of organs so that they will show up on an X-ray) is given into the rectum as an enema. An X-ray of the abdomen will show strictures (narrowed areas), obstructions (blockages), and other problems.
  • Anorectal manometry. This test measures the strength of the muscles in the anus, nerve reflexes, ability to sense rectal distention, and coordination of muscles during defecation.
  • Rectal biopsy. This test takes a sample of the cells in the rectum to be examined under a microscope for any problems.
  • Sigmoidoscopy. A diagnostic procedure that allows the health care provider to examine the inside of a portion of the large intestine. Sigmoidoscopy is helpful in identifying the causes of diarrhea, abdominal pain, constipation, abnormal growths, and bleeding. A short, flexible, lighted tube, called a sigmoidoscope, is inserted into the intestine through the rectum. The scope blows air into the intestine to inflate it and make viewing the inside easier.
  • Colorectal transit study. This procedure shows how well food moves through the colon. The child swallows capsules containing small markers which are visible on X-ray. The child follows a high-fiber diet during the course of the test, and the movement of the markers through the colon is monitored with abdominal X-rays taken several times 3 to 7 days after the capsule is swallowed.
  • Colonoscopy. A procedure that allows the health care provider to view the entire length of the large intestine. A colonoscopy can often help identify abnormal growths, inflamed tissue, ulcers, and bleeding. It involves inserting a colonoscope, a long, flexible, lighted tube, in through the rectum up into the colon. The colonoscope allows the health care provider to see the lining of the colon, remove tissue for further examination, and possibly treat some problems that are discovered.

When should you contact a health care provider?

Do not hesitate to contact your child's health care provider if you have any questions or concerns about your child's bowel habits or patterns. The National Institutes of Health recommends that you talk to your child's health care provider if:

  • Episodes of constipation last longer than 2 weeks.
  • The child is unable to participate in normal activities because of constipation.
  • Normal pushing is not enough to expel a stool.
  • Liquid or soft stool leaks out of the anus.
  • Small, painful tears appear in the skin around the anus.
  • Hemorrhoids develop.
  • Abdominal pain, fever, or vomiting
Children's Team

Children's Team

Providers

Albert Oh

Plastic and Reconstructive Surgeon
rogers

Gary Rogers

Division Chief, Plastic and Reconstructive Surgery
Our Stories

Our Stories

John Myseros

John Myseros' Story

Dr. Myseros began at Children’s National more than five years ago and has a personal and professional interest in the care of children with tumors of the brain and spinal cord.

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John Myseros' Story

John Myseros

Dr. Myseros began at Children’s National more than five years ago and has a personal and professional interest in the care of children with tumors of the brain and spinal cord.

Read More of John Myseros' Story