Overview
Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a birth defect in which one or more fibrous joints between the bones of a baby's skull (cranial sutures) close prematurely, before the baby's brain is fully formed. This premature closure can cause the head to appear misshapen as the brain continues to grow. Craniosynostosis can affect one or more of the sutures in a baby's skull, including the front, back, or sides.
Understanding the disease
Symptoms
Symptoms of craniosynostosis may include:
- Stiff neck and pain when you bend your head forward
- Mental confusion, strange behavior or altered speech
- Persistent vomiting
- Difficulty breathing or chest pain
- Abdominal pain
- Pain when urinating
- Convulsions or seizures These signs and severity depend on how many sutures are fused and when in brain development the fusion occurs. It's important to note that early diagnosis and treatment are crucial to allow your baby's brain adequate space to grow and develop, as neurological damage can occur in severe cases.
Risk Factors
The exact risk factors for developing craniosynostosis are not entirely clear, but there are certain associations observed. These include:
- Genetic factors: Certain genetic syndromes, such as Apert syndrome, Pfeiffer syndrome, and Crouzon syndrome, can increase the risk of developing craniosynostosis.
- Family history: A family history of craniosynostosis or related genetic disorders may increase the risk.
- Premature birth: Infants born prematurely may have an increased risk of developing craniosynostosis.
- Maternal health: Maternal health factors, such as poor nutrition, alcohol consumption, or certain medication usage during pregnancy, may play a role. It's important to note that in many cases, the cause of craniosynostosis remains unknown (idiopathic).
Development
Craniosynostosis develops when one or more of the fibrous joints between the bones of a baby's skull (cranial sutures) close prematurely, before the baby's brain is fully formed. The premature closure of these sutures restricts the growth of the skull and results in a misshapen head. The shape of the head depends on which sutures are affected. There are several types of craniosynostosis, most of which involve the fusion of a single cranial suture. Sagittal craniosynostosis, the most common type, occurs when the sagittal suture fuses prematurely, causing the head to grow long and narrow. Other types include coronal craniosynostosis, which affects the coronal sutures and causes the head to grow wider, and lambdoid craniosynostosis, which affects the lambdoid sutures and causes the head to have a diamond-shaped appearance. In rare cases, craniosynostosis is caused by certain genetic syndromes, known as syndromic craniosynostosis. This type involves the fusion of multiple sutures and is usually accompanied by other physical features and health problems. Craniosynostosis can lead to complications such as a permanently misshapen head and face, and in some cases, increased pressure inside the skull. Treating craniosynostosis involves surgery to correct the shape of the head and allow for brain growth. Early diagnosis and treatment are crucial to prevent these complications and ensure the child's normal development.
Assessment and Diagnosis
Triage
If you suspect craniosynostosis in your baby, you should consult your pediatrician. They will monitor your child's head growth at well-child visits. However, if you have concerns about your baby's head growth or shape, you should discuss them with your healthcare provider. Early diagnosis and treatment are crucial to ensure proper brain development and minimize any potential complications.
Diagnosis
To diagnose craniosynostosis, a healthcare professional will typically perform a physical exam and request imaging studies, such as a CT scan or MRI. They may also consider genetic testing if an underlying genetic syndrome is suspected. Early diagnosis and treatment are important for the best outcome in most cases.
Management and Treatment
Complications
Potential complications of craniosynostosis may include a permanently misshapen head and face, poor self-esteem and social isolation, and increased pressure inside the skull (intracranial pressure). In severe cases, craniosynostosis can cause muscle weakness, muscle spasticity, and coordination problems, contributing to complications such as contracture, malnutrition, hip dislocation, scoliosis, and other orthopedic deformities. Early diagnosis and treatment are crucial to prevent or minimize these complications.
Prevention
Craniosynostosis is a genetic disorder, and its causes are not well understood. Although there is no known way to prevent it, early diagnosis and treatment can help minimize potential complications and improve outcomes for affected children.
Treatment
Treating craniosynostosis involves surgery to correct the shape of the head and allow for brain growth. Early diagnosis and treatment are key. The doctor will perform surgery to remove the fusion and reshape the skull, allowing the brain to grow and develop properly. The goal of surgery is to create a head shape that is as normal as possible, relieve pressure on the brain, and improve the baby's appearance. The outcome of surgery is often good, with most children developing as expected in their ability to think and reason (cognitive development) and having good cosmetic results after surgery.
Preparing for medical consultation
To prepare for an appointment for craniosynostosis, make a list of any signs you've noticed, such as raised ridges or a change in the shape of your baby's face or head, and questions to ask your healthcare provider. Some questions you might want to ask include:
- What's the most likely cause of my baby's symptoms?
- Are there other possible causes?
- What kinds of tests does my baby need? Do these tests require any special preparation?
- What treatments are available, and which do you recommend?
- Are there alternatives to the treatment you're recommending?
- What are the risks involved with surgery?
- Who will perform the surgery if it's needed?
- What happens if we choose not to have the surgery right now?
- Will the shape of the skull affect the functioning of my baby's brain?
- What is the likelihood of future children having the same condition? Additionally, be aware of any pre-appointment restrictions, write down any symptoms and personal information, make a list of all medications, and consider bringing a family member or friend along to the appointment. Bring your previous scans or X-rays and any other medical records to the appointment.