Craniosynostosis: Types, Symptoms, Cause, Treatment, Success

The skull, or cranium, is a complex structure that protects the brain. It comprises 22 bones joined together by sutures (fibrous joints that allow for slight movement). 

During the birth process, the flexibility of the sutures allows the bones of the skull to overlap slightly. This enables the baby's head to pass through the birth canal easily. Normally, these sutures close completely around the age of 20. 

Craniosynostosis meaning is a congenital disability in which one or more of the sutures close early. This happens before the brain is fully formed. The premature fusion prevents normal skull growth and affects the shape of the head and face.

Craniosynostosis Types

Craniosynostosis can be classified into several types based on which sutures of the skull are prematurely fused. Each type affects the shape of the skull and sometimes the face in distinctive ways. The primary types are as follows:

1. Sagittal Synostosis (Scaphocephaly): This is the most common craniosynostosis type, contributing to 55% to 60% of cases. It involves the fusion of the sagittal suture, which extends from front to back at the top of the skull. This causes the skull to grow long and narrow.

2. Coronal Synostosis: Involves the premature closure of one or both coronal sutures, which run from ear to ear over the top of the skull. Unilateral closure leads to a flattened forehead and raised eye socket on the affected side. This is known as anterior plagiocephaly. Bilateral closure results in a short, wide skull, known as brachycephaly. It accounts for 20% to 25% of cases. 

3. Metopic Synostosis: This type (15% of craniosynostosis) involves the metopic suture fusion. It runs from the top of the forehead down the middle towards the nose. The condition leads to a triangular forehead that is wide in the back and narrow in the front. This shape is known as trigonocephaly.

4. Lambdoid Synostosis: The least common type (3% to 5%). It involves the fusion of the lambdoid suture, which runs along the back of the skull. This can cause flattening on one side of the back of the head, known as posterior plagiocephaly.

The craniosynostosis signs primarily involve changes in the shape of the baby’s head. These can be noticeable at birth or become more apparent during the first few months of life. The following are some common signs associated with this condition:

1. Misshapen Skull: Depending on which suture is fused, the shape of the skull may appear unusually long or wide. 

2. Abnormal Fontanel: The soft spot on the baby’s head may feel smaller than expected or may be absent altogether due to the premature fusion of the sutures.

3. Visible Ridge: A noticeable ridge might form along the fused suture.

4. Facial Asymmetry: The face becomes uneven, especially in cases where only one of the coronal sutures is fused (unilateral coronal synostosis). One side of the forehead or one eye may appear higher than the other.

A baby with this condition may experience the following craniosynostosis symptoms due to increased intracranial pressure:

1. Persistent crying or irritability 

2. Unusual lethargy or reduced activity levels 

3. Difficulty feeding 

4. Long pauses in breathing during sleep 

5. Frequent episodes of vomiting 

The cause of craniosynostosis is generally unknown. However, it may sometimes occur due to certain genetic disorders. These syndromes may include the following: 

1. Apert syndrome (atypical formation of the baby’s skull, face, feet, and hands)

2. Pfeiffer syndrome (premature fusion of certain bones in the skull) 

3. Crouzon syndrome (the coronal sutures fuse prematurely)

In most cases, craniosynostosis develops by chance. However, certain factors can increase the risk of this condition. These include: 

1. Gender: Male infants are more frequently diagnosed with craniosynostosis than females. This indicates a possible increased risk associated with male sex.

2. Prematurity: Babies who are born prematurely are at a higher risk for craniosynostosis. Their skull bones may not have fully developed, making them more susceptible to early fusion.

3. Medical Conditions: Mothers with thyroid disease or taking certain medications during pregnancy have an increased risk of a child with craniosynostosis.

While there is no guaranteed prevention of craniosynostosis, general health guidelines can contribute to overall foetal health and development. Preventive measures to reduce the risk of developmental issues are as follows: 

1. Receiving Counselling: It can guide families with genetic syndrome on the risks and considerations for future pregnancies.

2. Adequate Prenatal Care: Regular prenatal visits can ensure that potential health issues are managed early. Monitoring the health of both the mother and foetus during pregnancy is crucial.

3. Proper Nutrition: Ensuring a well-balanced diet rich in essential nutrients can support foetal development. As a doctor recommends, taking prenatal vitamins and supplements is important.

4. Monitoring Maternal Health: Conditions like thyroid disorders should be closely managed during pregnancy. Uncontrolled health issues in the mother can impact foetal growth.

Early and accurate diagnosis is crucial for effectively managing craniosynostosis. It allows timely intervention to prevent complications and promote normal brain and skull development. The tests involved in diagnosing the condition are as follows: 

1. Physical Examination: The doctor begins by thoroughly examining the infant’s head. They look for abnormalities in the shape of the skull, asymmetries, and palpable ridges along the sutures.

2. Imaging Studies: Craniosynostosis radiology imaging may be used to check the fusion of sutures. These tests include MRI, CT scan, or cranial ultrasound. 

3. Genetic Testing: If an underlying genetic syndrome is suspected, genetic testing might be conducted to identify specific mutations associated with the condition. 

Note: The tests recommended can vary from one person to another depending on their symptoms and condition. 

How to prepare for a doctor consultation? 

It involves gathering the necessary information to ensure the consultation is as informative as possible. The key steps to prepare for the appointment are as follows:

1. Write down the signs and symptoms witnessed in the child.  

2. Prepare a detailed medical history of the child, including previous diagnosis and current medications and supplements.  

3. Note the family’s health history. 

4. Make a list of questions for the doctor. 

Questions to ask the Doctor 

During a doctor consultation, it is important to ask questions that will help parents understand their child’s condition and the available treatment options. Here are some essential questions they might consider asking:

1. What is the cause of craniosynostosis? 

2. What are the treatment options available for my child?

3. Do you recommend craniosynostosis surgery, and if so, what does the procedure involve?

4. What are the risks and potential complications of the surgery?

5. Are there non-surgical options, and how effective are they?

The specific craniosynostosis therapy is decided based on the type and extent of the condition. The child’s age and overall health are also considered. The available treatment options are as follows: 

Non-Surgical Option

For mild craniosynostosis, a doctor may recommend helmet therapy. Babies wear a specially moulded helmet to gently direct the growth of the skull into a more normal shape. 

Surgery

It is the primary treatment for craniosynostosis. Surgical intervention aims to correct the abnormal skull shape and create space for brain development. The techniques used for surgery include: 

1. Endoscopic Surgery: This less invasive option is typically performed on infants younger than six months old. The procedure involves the following: 

1. The surgeon makes small incisions in the scalp. 

2. An endoscope is inserted to visualise the affected area. 

3. The fused suture is removed to allow the brain to grow naturally. 

2. Open Surgery: It is a traditional surgery performed on older infants (6 months and above). The steps are as follows: 

1. It involves a larger incision in the scalp. 

2. The surgeon cuts and repositions the bones with the help of absorbable plates and screws. 

3. Some babies may need more than one surgery to correct the shape of their head. 

Note: The craniosynostosis treatment is selected based on the patient’s condition and the doctor’s opinion. 

The cost of craniosynostosis surgery in India can vary based on several factors. The surgeon’s fees, hospital facilities, and type of procedure can contribute to the overall expenditure. The estimated price of treatment is as follows: 

Note: Please consult HexaHealth experts for accurate and current prices.

Delaying treatment for craniosynostosis syndrome can lead to several significant complications due to the constrained growth of the brain. Mentioned below are the primary risks associated with postponing the treatment:

1. Developmental delays, including cognitive abilities and motor skills 

2. Neurological complications like seizures 

3. Visual impairments, such as strabismus (eye misalignment)

4. Breathing difficulties caused by abnormalities in other bones of the face 

5. Permanent misshapen skull and face 

When to consult a doctor?

Consulting a doctor for craniosynostosis should be considered if parents notice any signs or symptoms that could indicate the condition in their child. Instances when one should seek medical advice include:

1. Abnormal head shape 

2. Slow head growth 

3. A hard ridge along suture lines on the baby’s skull 

Craniosynostosis is a significant medical condition in which early diagnosis and treatment are crucial. Surgical intervention is often necessary to correct the shape of the skull and alleviate any potential pressure on the brain. Parents should monitor for any signs of developmental delays in their children and seek prompt medical advice.

At HexaHealth, we are dedicated to supporting families facing the challenges of craniosynostosis. Our experts offer treatment for all craniosynostosis types, ensuring effective management of the condition. With us, you can access experienced specialists who cater to each child’s unique needs.

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