This birth defect results in premature fusing of one or more of the joints between the bone plates of an infant's skull before the brain is fully formed.
Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a birth defect 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.
Normally, during infancy the sutures remain flexible, giving your baby's brain time to grow. 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 you feel just behind your baby's forehead. The next largest 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 can involve more than one of the sutures in your 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 normal 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 have normal cognitive development and achieve good cosmetic results after surgery. Early diagnosis and treatment are key.
The signs of craniosynostosis are usually noticeable at birth, but they'll 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. These can include:
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. Most cases of multiple suture craniosynostosis are linked to genetic syndromes and are called syndromic craniosynostosis.
The term given to each type of craniosynostosis depends on what sutures are affected. Types of craniosynostosis include:
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 on one side of his or her 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 normal appearance.
Your doctor 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.
Often the cause of craniosynostosis is not known, but sometimes it's related to genetic disorders.
If untreated, craniosynostosis may cause, for example:
The risk of increased pressure inside the skull (intracranial pressure) from simple craniosynostosis is small, as long as 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:
Craniosynostosis requires evaluation by specialists, such as a pediatric neurosurgeon or a specialist in plastic and reconstructive surgery. Diagnosis of craniosynostosis may include:
Mild cases of craniosynostosis may not need treatment. Your doctor may recommend a specially molded helmet to help reshape your baby's head if the cranial sutures are open and the head shape is abnormal. In this situation, the molded helmet can assist your baby's brain growth and correct the shape of the skull.
However, for most babies, surgery is the primary treatment. The type and timing of surgery depends on the type of craniosynostosis and whether there's an underlying genetic syndrome. Sometimes more than one surgery is required.
The purpose of surgery is to correct the abnormal head shape, reduce or prevent pressure on the brain, create room for the brain to grow normally, and improve your baby's appearance. This involves a process of planning and surgery.
Imaging studies can help surgeons develop a surgical procedure plan. Virtual surgical planning for treatment of craniosynostosis uses high-definition 3D CT scans and MRIs of your baby's skull to construct a computer-simulated, individualized surgical plan. Based on that virtual surgical plan, customized templates are constructed to guide the procedure.
A team that includes a specialist in surgery of the head and face (craniofacial surgeon) and a specialist in brain surgery (neurosurgeon) generally performs the procedure. Surgery can be done by endoscopic or open surgery. Both types of procedures generally produce very good cosmetic results with low risk of complications.
After endoscopic surgery, office visits at certain intervals are required to fit a series of helmets to help shape your baby's skull. The surgeon will determine the length of helmet therapy based on how quickly the shape responds to treatment. If open surgery is done, no helmet is needed afterward.
When you learn that your baby has craniosynostosis, you may experience a range of emotions, including anger, fear, worry, sorrow and guilt. You may not know what to expect, and you may worry about your ability to care for your baby. The best antidote for fear and worry is information and support.
Consider these steps to prepare yourself and to care for your baby:
In some cases, your baby's pediatrician may suspect craniosynostosis at a routine well-baby visit. In other cases, you may make an appointment because you have concerns about your baby's head growth. Your doctor can refer you to a specialist for diagnosis and treatment.
Here's some information to help you get ready for your appointment. If possible, bring a family member or friend with you. A trusted companion can help you remember information and provide emotional support.
Before the appointment, make a list of:
Questions to ask might include:
Don't hesitate to ask other questions during the appointment.
Your doctor is likely to ask you questions, such as:
Your doctor will ask additional questions based on your responses. Preparing and anticipating questions will help you make the most of your time with the doctor.
January 22nd, 2020