Craniosynostosis: Symptoms, Diagnosis, and Treatment Options

Introduction

Craniosynostosis is a rare but serious condition that affects the development of a baby’s skull. First described in the 19th century, craniosynostosis occurs when one or more sutures (the fibrous joints between skull bones) close prematurely, disrupting skull and brain growth. This can lead to an abnormal head shape, developmental delays, and increased intracranial pressure. Early diagnosis and treatment are crucial to prevent complications. This article provides a comprehensive overview of craniosynostosis, covering risk factors, symptoms, diagnostic tests, treatment options, and home care strategies. By understanding this condition, patients and families can make informed decisions about care and treatment.

What is Craniosynostosis?

Craniosynostosis occurs when one or more sutures in a baby’s skull close prematurely, leading to abnormal skull shape and potential developmental issues. This article will explore the risk factors, symptoms, diagnostic tests, medications, surgical procedures, and home care strategies for managing craniosynostosis.

Description of Craniosynostosis

Craniosynostosis is a congenital condition, meaning it is present at birth. Normally, a baby’s skull consists of several bones separated by sutures, which allow the skull to expand as the brain grows. In craniosynostosis, one or more sutures close too early, restricting skull growth in that area. As a result, the brain may push the skull in other directions, leading to an abnormal head shape. If untreated, craniosynostosis can cause increased intracranial pressure, leading to developmental delays, vision problems, and cognitive impairments.

The progression of craniosynostosis varies depending on the number of sutures involved and the severity of the condition. In some cases, only one suture is affected (simple craniosynostosis), while in others, multiple sutures are involved (complex craniosynostosis). The condition can also be part of a genetic syndrome, which may lead to additional health problems.

Craniosynostosis affects approximately 1 in every 2,000 to 2,500 live births. It is more common in males than females and can occur as an isolated condition or as part of a syndrome. Early diagnosis and treatment are essential to prevent complications and ensure the best possible outcome for the child.

Risk Factors for Developing Craniosynostosis

Lifestyle Risk Factors

While craniosynostosis is primarily congenital, certain lifestyle factors during pregnancy may increase the risk. For example, maternal smoking during pregnancy has been linked to a higher risk of craniosynostosis. Additionally, maternal use of certain medications, such as fertility treatments or anti-seizure drugs, may also increase the likelihood. Expectant mothers should maintain a healthy lifestyle, avoid smoking, and consult their healthcare provider before taking any medications during pregnancy.

Medical Risk Factors

Several medical conditions can increase the risk of craniosynostosis. For instance, maternal thyroid disease, particularly hyperthyroidism, has been linked to a higher risk of craniosynostosis in newborns. Additionally, conditions affecting fetal development, such as oligohydramnios (low amniotic fluid), may contribute to craniosynostosis. Regular prenatal care is essential for monitoring potential complications that could increase the risk.

Genetic and Age-Related Risk Factors

Genetics play a significant role in craniosynostosis development. In some cases, the condition is inherited as part of a genetic syndrome, such as Crouzon, Apert, or Pfeiffer syndrome. These syndromes are caused by mutations in specific genes affecting skull and body development. If a parent has one of these syndromes, their child is at higher risk of developing craniosynostosis.

Additionally, advanced maternal age (over 35 years) has been associated with an increased risk. While the exact cause is unclear, it is believed that genetic mutations may be more likely in older mothers, contributing to craniosynostosis in their children.

Signs and Symptoms of Craniosynostosis

Abnormal Head Shape

An abnormal head shape is the most common sign of craniosynostosis, occurring in nearly 100% of cases. When one or more sutures close prematurely, the skull’s growth is restricted in certain areas, leading to an unusual shape. The specific shape depends on which suture is affected. For example, if the sagittal suture closes early, the head may become long and narrow (scaphocephaly). If the coronal suture is involved, the forehead may appear flattened on one side (plagiocephaly). Early identification of abnormal head shape is crucial for timely intervention.

Increased Intracranial Pressure

Increased intracranial pressure (ICP) occurs in about 15% of craniosynostosis cases. Premature suture closure limits space for brain growth, causing pressure to build inside the skull. Symptoms of increased ICP include headaches, vomiting, and irritability. If untreated, elevated ICP can lead to severe complications, such as vision problems or developmental delays. Monitoring for signs of increased ICP is essential as the child grows and the brain continues to expand.

Developmental Delays

Developmental delays affect 30-50% of children with craniosynostosis, especially when multiple sutures are involved. These delays can impact motor skills, speech, and cognitive development. Restricted skull growth can interfere with normal brain development, delaying milestones like sitting, walking, or talking. Early intervention with physical, occupational, or speech therapy can help mitigate these delays and support overall development.

Irritability

Irritability is common in infants with craniosynostosis, affecting 20-30% of patients. This may result from discomfort or pain due to increased intracranial pressure or abnormal skull shape. Babies may cry more frequently, have trouble sleeping, or seem unusually fussy. While irritability is a nonspecific symptom, it should be considered alongside other signs of craniosynostosis, especially if the baby’s head shape is abnormal.

Feeding Difficulties

Feeding difficulties occur in about 10-15% of infants with craniosynostosis. These issues may arise due to the abnormal skull and facial shape, affecting jaw and mouth alignment. Babies may struggle with breastfeeding or bottle feeding. In some cases, feeding difficulties may also be related to increased intracranial pressure, causing discomfort during feeding. Addressing feeding challenges early is important to ensure proper nutrition and growth.

Visible Sutures

In some cases, the sutures of the skull may become visible or prominent, especially if the skull is under pressure from brain growth. This is more common in infants with craniosynostosis affecting multiple sutures. Visible sutures may appear as ridges or raised lines on the baby’s head due to uneven skull expansion. Visible sutures are often a key indicator for healthcare providers when diagnosing craniosynostosis.

Bulging Forehead

A bulging forehead, or frontal bossing, occurs in about 20-30% of craniosynostosis cases, particularly when the coronal or metopic sutures are involved. Premature closure of these sutures can cause the forehead to protrude abnormally. This happens because restricted skull growth in certain areas forces other parts of the skull to grow outward. A bulging forehead is one of the more visible signs of craniosynostosis and may prompt parents to seek medical evaluation.

Asymmetrical Facial Features

Asymmetrical facial features are present in about 40-50% of craniosynostosis cases, especially when the coronal or lambdoid sutures are affected. Abnormal skull growth can cause one side of the face to appear different from the other. For example, one eye may be higher than the other, or the nose may appear crooked. These asymmetries occur because premature suture closure affects the skull and face’s overall shape and alignment. Surgical intervention may be required to correct these facial asymmetries.

Eye Problems

Eye problems, such as strabismus (misaligned eyes) or proptosis (bulging eyes), occur in about 20-30% of children with craniosynostosis. These issues arise because abnormal skull growth can affect the eye sockets, leading to misalignment or pressure on the eyes. In some cases, increased intracranial pressure can also contribute to vision problems. Early detection and treatment of eye problems are important to prevent long-term vision impairment.

Hearing Loss

Hearing loss is less common, occurring in about 5-10% of craniosynostosis cases. This can happen if abnormal skull growth affects the middle ear bones or auditory nerve. Hearing loss may be mild or severe and can impact speech and language development. Regular hearing assessments are recommended for children with craniosynostosis to identify and address any hearing issues promptly.

Diagnostic Evaluation of Craniosynostosis

The diagnosis of craniosynostosis typically begins with a thorough physical examination and detailed patient history. During the exam, the healthcare provider will assess the baby’s head shape, feel for ridges along the sutures, and check for signs of increased intracranial pressure. If craniosynostosis is suspected, further diagnostic tests are ordered to confirm the diagnosis and determine which sutures are affected. These tests may include imaging studies such as CT scans, MRIs, or X-rays, as well as genetic testing in some cases. Early and accurate diagnosis is essential for planning appropriate treatment and preventing complications.

CT Scan

Test Information

A computed tomography (CT) scan uses X-rays to create detailed cross-sectional images of the skull. During the test, the patient lies on a table that slides into a large, donut-shaped machine. The machine takes multiple X-ray images from different angles, which are combined by a computer to produce a 3D image of the skull. CT scans are particularly useful for diagnosing craniosynostosis because they provide clear images of the sutures and skull bones, allowing healthcare providers to see if any sutures have fused prematurely. The test is non-invasive and typically takes about 10-30 minutes.

Results that Indicate Craniosynostosis

If the CT scan shows that one or more sutures have fused prematurely, this strongly indicates craniosynostosis. The healthcare provider will look for abnormal bone growth along the sutures and assess the skull’s overall shape. In some cases, the CT scan may also reveal increased intracranial pressure or other complications. If the CT scan results are normal but the baby continues to show symptoms, further testing may be needed to rule out other conditions or monitor the baby’s development over time.

MRI

Test Information

Magnetic resonance imaging (MRI) uses powerful magnets and radio waves to create detailed images of the brain and skull. During the test, the patient lies on a table that slides into a large, tube-shaped machine. The MRI machine takes multiple images, which are combined to produce a 3D image of the skull and brain. MRI is particularly useful for assessing brain structure and function, as well as detecting complications related to increased intracranial pressure. The test is non-invasive and typically takes about 30-60 minutes.

Results that Indicate Craniosynostosis

An MRI can confirm craniosynostosis by showing whether sutures have fused prematurely and whether abnormal skull growth is affecting the brain. The healthcare provider will look for signs of restricted brain growth, increased intracranial pressure, or other abnormalities. If the MRI results are normal but symptoms persist, further testing may be needed to monitor development or rule out other conditions.

X-ray

Test Information

An X-ray is a quick imaging test that uses a small amount of radiation to create images of the bones. For craniosynostosis, X-rays can assess skull shape and suture status. During the test, the patient lies on a table while a machine takes images of the skull from different angles. X-rays are less detailed than CT scans or MRIs but can still provide useful information about the skull’s structure. The test is non-invasive and typically takes only a few minutes.

Results that Indicate Craniosynostosis

If the X-ray shows that one or more sutures have fused prematurely, this may indicate craniosynostosis. The healthcare provider will look for abnormal bone growth along the sutures and assess the skull’s overall shape. X-rays are often used as an initial screening tool, and if results suggest craniosynostosis, further imaging tests like CT scans or MRIs may be ordered to confirm the diagnosis. If X-ray results are normal but symptoms persist, additional testing may be needed to rule out other conditions.

Ultrasound

Test Information

Ultrasound is a non-invasive imaging test that uses sound waves to create images of internal structures. For craniosynostosis, ultrasound can assess skull sutures in infants, particularly in the first few months when bones are still soft. During the test, a small handheld device called a transducer is placed on the baby’s head, and sound waves create images of the skull and sutures. Ultrasound is safe, painless, and radiation-free, making it a good option for young infants.

Results that Indicate Craniosynostosis

If the ultrasound shows that one or more sutures have fused prematurely, this may indicate craniosynostosis. The healthcare provider will look for abnormal bone growth along the sutures and assess the skull’s overall shape. Ultrasound is often used as an initial screening tool, especially in very young infants. If results suggest craniosynostosis, further imaging tests like CT scans or MRIs may be ordered to confirm the diagnosis. If ultrasound results are normal but symptoms persist, additional testing may be needed to monitor development or rule out other conditions.

What if All Tests are Negative but Symptoms Persist?

If all diagnostic tests come back negative but your child continues to show symptoms of craniosynostosis, it is important to follow up with your healthcare provider. In some cases, the condition may not be immediately apparent on imaging tests, especially in very young infants. Your provider may recommend continued monitoring of your child’s head growth and development, as well as repeat imaging tests at a later time. If craniosynostosis is still suspected, a referral to a specialist, such as a pediatric neurosurgeon or craniofacial surgeon, may be necessary for further evaluation and treatment.

Health Conditions with Similar Symptoms to Craniosynostosis

Plagiocephaly

Plagiocephaly, often referred to as “flat head syndrome,” occurs when a baby’s head develops a flat spot, typically on one side or the back of the skull. This condition is usually caused by external pressure, often from lying in the same position for extended periods. It is common and generally not associated with brain or developmental issues.

How to Know if You Might Have Plagiocephaly vs Craniosynostosis

Both plagiocephaly and craniosynostosis can cause abnormal head shapes, making it difficult to distinguish between them at first. However, there are key differences. In plagiocephaly, the skull remains soft and flexible, with a flat spot usually on one side. The ears may appear misaligned, but the forehead and face typically remain symmetrical. In contrast, craniosynostosis involves premature fusion of skull bones, leading to a more rigid skull and asymmetry that affects the entire face and forehead.

A healthcare provider may perform a physical exam and order imaging tests, such as X-rays or CT scans, to differentiate between the two. In plagiocephaly, the sutures will appear normal, while craniosynostosis will show early closure of one or more sutures. Plagiocephaly is often treated with repositioning techniques or helmet therapy, while craniosynostosis may require surgery.

Hydrocephalus

Hydrocephalus is characterized by an abnormal buildup of cerebrospinal fluid (CSF) in the brain’s ventricles, which increases pressure inside the skull. This can lead to an enlarged head, developmental delays, and other neurological symptoms. Hydrocephalus can be congenital or acquired later due to injury or disease.

How to Know if You Might Have Hydrocephalus vs Craniosynostosis

Both hydrocephalus and craniosynostosis can cause abnormal head shapes and increased skull pressure. However, in hydrocephalus, head enlargement is usually more uniform, and the soft spot (fontanelle) may bulge. Symptoms such as vomiting, irritability, seizures, and downward eye deviation (“sunsetting”) are common in hydrocephalus but not in craniosynostosis.

Imaging tests like ultrasound, MRI, or CT scans can help differentiate the two. Hydrocephalus will show enlarged ventricles filled with excess fluid, while craniosynostosis will reveal fused sutures. Hydrocephalus treatment often involves surgically placing a shunt to drain excess fluid, while craniosynostosis typically requires surgery to correct the skull shape.

Microcephaly

Microcephaly is a condition where a baby’s head is significantly smaller than expected for their age and sex, often due to improper brain development or growth cessation. Causes include genetic factors, infections during pregnancy, or exposure to harmful substances.

How to Know if You Might Have Microcephaly vs Craniosynostosis

Both microcephaly and craniosynostosis can result in a smaller-than-normal head size. However, in microcephaly, the small head size is due to poor brain growth, while in craniosynostosis, the brain may grow normally, but the skull cannot expand properly due to premature suture fusion. Babies with microcephaly may also experience developmental delays, intellectual disabilities, and seizures, which are not typical in craniosynostosis.

Imaging tests like MRI or CT scans can help differentiate the two. In microcephaly, the brain will appear smaller, while in craniosynostosis, the brain may be normal in size, but the skull will show fused sutures. Microcephaly treatment focuses on managing symptoms and providing developmental support, while craniosynostosis often requires surgery to correct the skull shape.

Craniofacial Syndromes

Craniofacial syndromes are genetic disorders that affect the development of the skull and face. Syndromes like Apert and Crouzon often involve craniosynostosis along with other abnormalities of the face, hands, and feet. Children with craniofacial syndromes may have distinctive facial features and developmental delays.

How to Know if You Might Have a Craniofacial Syndrome vs Craniosynostosis

Craniosynostosis can occur alone or as part of a craniofacial syndrome. If your child has craniosynostosis along with other abnormalities, such as fused fingers or toes (syndactyly), a flattened midface, or a beaked nose, they may have a craniofacial syndrome. Developmental delays and hearing or vision problems are also more common in craniofacial syndromes than in isolated craniosynostosis.

Genetic testing can help identify craniofacial syndromes. Imaging tests like CT scans will show fused sutures in both conditions, but additional physical abnormalities and genetic mutations point to a craniofacial syndrome. Treatment often involves a team of specialists, including surgeons, geneticists, and developmental therapists.

Positional Plagiocephaly

Positional plagiocephaly is a type of flat head syndrome caused by external pressure on the skull, usually from lying in the same position for long periods. Unlike craniosynostosis, positional plagiocephaly does not involve premature skull bone fusion and is generally considered a cosmetic issue rather than a medical one.

How to Know if You Might Have Positional Plagiocephaly vs Craniosynostosis

Both positional plagiocephaly and craniosynostosis can cause asymmetrical head shapes, but there are key differences. In positional plagiocephaly, the flat spot is usually on the back or one side of the head, and the skull remains soft and flexible. The forehead and face are typically unaffected. In contrast, craniosynostosis causes a more rigid skull and can affect the entire face and forehead, leading to more pronounced asymmetry.

A physical exam and imaging tests like X-rays or CT scans can help differentiate the two. In positional plagiocephaly, the skull sutures will appear normal, while in craniosynostosis, one or more sutures will be fused. Treatment for positional plagiocephaly often involves repositioning techniques or helmet therapy, while craniosynostosis usually requires surgery.

Achondroplasia

Achondroplasia is a genetic disorder that affects bone growth, leading to short stature and disproportionately short arms and legs. It is the most common form of dwarfism. People with achondroplasia typically have a normal-sized torso but shorter limbs and a larger head with a prominent forehead.

How to Know if You Might Have Achondroplasia vs Craniosynostosis

Both achondroplasia and craniosynostosis can cause an abnormally shaped head, but the causes and associated symptoms differ. In achondroplasia, the head is often larger than normal, with a prominent forehead, but the skull sutures are not fused prematurely. Achondroplasia also affects the limbs, leading to short arms and legs, which is not seen in craniosynostosis.

Genetic testing can confirm achondroplasia. Imaging tests like X-rays can show characteristic bone abnormalities, including shortened long bones and a larger-than-normal skull. In contrast, craniosynostosis will show fused sutures on imaging. Treatment for achondroplasia focuses on managing symptoms and supporting growth and development, while craniosynostosis typically requires surgery to correct the skull shape.

Down Syndrome

Down syndrome is a genetic disorder caused by an extra copy of chromosome 21. It leads to developmental delays, intellectual disabilities, and characteristic physical features, such as a flat facial profile, upward-slanting eyes, and a single crease across the palm of the hand.

How to Know if You Might Have Down Syndrome vs Craniosynostosis

Both Down syndrome and craniosynostosis can cause changes in head shape, but the overall presentation differs. In Down syndrome, the head may be smaller than average, and the face may have a flat profile. However, the skull sutures are not fused prematurely. Down syndrome also causes developmental delays, intellectual disabilities, and other physical features, such as a single crease across the palm, which are not seen in craniosynostosis.

Genetic testing can confirm Down syndrome. Imaging tests like CT scans will show normal skull sutures in Down syndrome, while craniosynostosis will show fused sutures. Treatment for Down syndrome focuses on managing developmental and medical needs, while craniosynostosis typically requires surgery to correct the skull shape.

Turner Syndrome

Turner syndrome is a genetic disorder affecting females, caused by the complete or partial absence of one X chromosome. It leads to short stature, delayed puberty, and other physical features, such as a webbed neck and low-set ears.

How to Know if You Might Have Turner Syndrome vs Craniosynostosis

Both Turner syndrome and craniosynostosis can cause changes in head shape, but the overall presentation is different. In Turner syndrome, the head may appear smaller, but the skull sutures are not fused prematurely. Turner syndrome also causes other physical features, such as a webbed neck, low-set ears, and short stature, which are not seen in craniosynostosis.

Genetic testing can confirm Turner syndrome. Imaging tests like CT scans will show normal skull sutures in Turner syndrome, while craniosynostosis will show fused sutures. Treatment for Turner syndrome focuses on managing growth and developmental issues, while craniosynostosis typically requires surgery to correct the skull shape.

Treatment Options for Craniosynostosis

Medications

Currently, no specific medications can cure craniosynostosis. However, medications may be prescribed to manage symptoms or complications, such as pain or swelling after surgery. These medications are typically used alongside surgical interventions, which are the primary treatment for craniosynostosis.

Procedures

Cranial Vault Remodeling

Definition: Cranial vault remodeling is a surgical procedure that reshapes the skull bones to allow normal brain growth and correct the abnormal head shape caused by craniosynostosis.

How and When It’s Used: This procedure is typically performed when multiple sutures are fused prematurely or when the condition is diagnosed later, usually after 6 months of age. It involves removing and reshaping parts of the skull to create more space for brain growth. Cranial vault remodeling is often recommended for more severe cases where less invasive procedures may not be effective.

Expected Outcomes: Patients can expect significant improvement in head shape and brain development. Results are usually long-lasting, though follow-up surgeries may be needed in some cases. Recovery time varies, but most children recover within weeks to months.

Strip Craniectomy

Definition: Strip craniectomy is a surgical procedure that removes a strip of bone along the fused suture to allow the skull to expand as the brain grows.

How and When It’s Used: This procedure is typically performed in infants younger than 6 months, as their skulls are still soft and malleable. Strip craniectomy is less invasive than cranial vault remodeling and is often used for single-suture craniosynostosis. It is usually followed by helmet therapy to help shape the skull as it heals.

Expected Outcomes: Strip craniectomy can lead to significant improvements in skull shape and brain development. The procedure is generally successful in preventing further complications, and recovery is often quicker than with more invasive surgeries.

Endoscopic Strip Craniectomy

Definition: Endoscopic strip craniectomy is a minimally invasive version of the traditional strip craniectomy. It uses an endoscope (a small camera) to guide the surgeon in removing the fused suture through small incisions.

How and When It’s Used: This procedure is typically performed in infants younger than 3 to 6 months. It is less invasive than open surgery and involves smaller incisions, reducing recovery time and minimizing scarring. Like traditional strip craniectomy, it is often followed by helmet therapy to help shape the skull.

Expected Outcomes: Endoscopic strip craniectomy offers similar outcomes to traditional strip craniectomy, with the added benefit of shorter recovery times and less visible scarring. Most children experience significant improvements in head shape and brain development.

Improving Craniosynostosis and Seeking Medical Help

While no home remedies can treat craniosynostosis, parents can take steps to support their child’s recovery and well-being after surgery. These include:

1. Ensuring proper post-surgical care, such as keeping the surgical site clean and following all healthcare provider instructions.
2. Providing a safe and comfortable environment for the child to rest and recover.
3. Attending all follow-up appointments to monitor progress and address any concerns.
4. Using helmet therapy as prescribed to help shape the skull after surgery.

It’s important to seek medical help if you notice signs of craniosynostosis, such as an abnormal head shape or developmental delays. Early diagnosis and treatment are crucial for preventing complications and ensuring the best outcomes. Telemedicine offers a convenient way to consult healthcare providers, especially for initial evaluations and follow-up care. Through telemedicine, you can discuss concerns, share photos of your child’s head shape, and receive guidance on next steps from home.

Living with Craniosynostosis: Tips for Better Quality of Life

Living with craniosynostosis can be challenging, but with the right support and care, most children lead healthy, normal lives. Here are some tips to improve your child’s quality of life:

1. Early Intervention: Early diagnosis and treatment are key to preventing complications and supporting normal brain development. If you suspect craniosynostosis, seek medical advice promptly.
2. Follow-Up Care: Regular follow-up appointments with your healthcare provider are essential to monitor progress and address concerns. Telemedicine can make it easier to stay on top of your child’s care.
3. Helmet Therapy: If your child undergoes a strip craniectomy or endoscopic surgery, helmet therapy may be recommended to help shape the skull as it heals. Follow your healthcare provider’s instructions for wearing the helmet.
4. Support Networks: Connecting with other families who have children with craniosynostosis can provide valuable emotional support and practical advice. Consider joining a support group or online community.
5. Developmental Monitoring: Keep an eye on your child’s developmental milestones, such as motor skills, speech, and cognitive abilities. If you notice delays, talk to your healthcare provider about early intervention services.

James Kingsley

Learn More