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
o Minimally invasive surgery for infants younger than 3 months to open skull sutures for
normal skull and brain growth
o 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 Assessment

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.