Craniosynostosis: Description, Causes and Risk Factors:The normal skull consists of several plates of bone that are separated by sutures. The sutures (fibrous joints) are found between the bony plates in the head. As the infant grows and develops, the sutures close, forming a solid piece of bone, called the skull.Craniosynostosis is a medical term that literally means fused bones of the skull. It is a condition that some children are born with or later develop. The skull is abnormally shaped because of the fusion of skull bones.There are numerous types of craniosynostosis. Different names are given to various types of craniosynostosis. The names depend on which suture or sutures are involved.To better understand craniosynostosis, it is helpful to know that our skulls are not made up of one single "bowl" of bone. Instead, different bones that fit together like a jigsaw puzzle make up the skull. The areas where the bones meet one another are called sutures. As a baby grows, the brain rapidly increases in size. According to current theories of growth, the growing brain pushing on the bones of the skull causes the skull bones to expand and grow. Much of this growth occurs in the areas of the sutures where the bone meet. When one of the sutures fuse, it is called craniosynostosis. There will be no growth in this area. This inability to grow in one area may lead to overgrowth in another area. This results is an abnormally shaped skull.At present, no one is sure why these birth defects occur. Studies do not show that there is anything in particular the mother did or did not do which results in these defects. Most likely, some accident occured very early in development to one of the baby's genes. In the normal population, plagiocephaly occurs in one of 2,500 births. This is the most common form of craniosynostosis. Some of the more rare craniosynostosis happen one in 50,000 births. If one child has craniosynostosis, there is a slim chance that a second child will have this problem. The chances are between 0 and 4.In some families, craniosynostosis is inherited in one of two ways:CraniosynostosisAutosomal recessive - Autosomal recessive means that two copies of the gene are necessary to express the condition, one inherited from each parent, who are 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.
The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved or other abnormalities are present. The prognosis is better for those with single suture involvement and no associated abnormalities.Symptoms:In infants with this condition, changes in the shape of the head and face may be noticeable. The appearance of the child's face may not be the same when compared to the other side. Other clinical findings may include the following:A 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 physician for a diagnosis.Diagnosis:Diagnosis begins with an examination by the pediatric neurosurgeon and the craniofacial surgeon. A distorted head at birth does not always result from craniosynostosis. The initial history involves questions about abnormal fetal position and neck tightness, which can cause positional deformities and do not require surgery. The physical examination involves carefully feeling the skull for suture ridges and soft spots, or fontanelles, and checking for neck position and other deformities. Measurements are taken of the child's face and head. Computerized tomography, a series of photographic images of the brain, is ordered since they provide the most reliable method of diagnosing early suture fusion. These are needed when planning the surgical correction.However, any child with an unusually shaped head is certainly suspect. Some children will experience a marked improvement in head shape when they begin to sit up and support their heads alone. However, sometimes this condition will worsen with growth. Sometimes it will remain the same. Another sign some parents note is a small ridge of bone that may run along the skull in different locations. Early closure or sealing of the fontanelle (soft spot) may be another sign of craniosynostosis.Treatment:Many children with craniosynostosis do not need any treatment. Each of the different types of craniosynostosis can occur in various degrees of severity. In the mildest form of craniosynostosis, only a small ridge can be felt. There is no abnormal skull shape. In some cases, the problem will worsen with growth. For some, it will stay the same. For others, it will improve with time.Children with obvious deformities should be treated. Those children with deformities that are predicted to worsen should also be treated. One of the greatest concerns is intracranial pressure. As the brain is growing, it needs to be able to push the skull bones apart, giving it more room to grow. If there is a fusion of a suture, as in craniosynostosis, growth is restricted, and the brain is squeezed. As the brain grows larger, the skull cannot expand. This may lead to a buildup of pressure inside the skull. This is increased pressure may cause a delay in development or a permanently damaged brain.The timing of the surgery varies with the type of craniosynostosis and with the severity of the deformity. Generally, it is best to wait until the child is at least 2-3 months old, as there may be a lower risk at this age. When surgery is performed at less than one year of age, the results are usually better than when performed later. With the exception of certain syndromes, one operation will correct the craniosynostosis. About 10% to 20% of patients need a second operation later to correct small remaining deformities.Surgery is only considered for these children after a pediatrician, trained in this field, certifies the child can tolerate the anesthesia and the operation. The surgery is usually performed by two specialists working together, one is craniofacial surgeon and the other is pediatric neurosurgeon.Problems after surgery may occur suddenly or over a period of time. The child may experience any, or all, of the following complications:Fever (greater that 101° F)
  • Vomiting.
  • Headache.
  • Irritability.
  • Redness and swelling along the incision areas.
  • Decreased alertness.
  • Fatigue.
NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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