What Is Scaphocephaly

Introduction

Scaphocephaly is a congenital condition characterized by the premature fusion of certain skull bones, leading to a long and narrow head shape.¹ It is considered a type of craniosynostosis, which is a group of birth defects linked to the early closure of one or more sutures, and scaphocephaly is the most common.² In scaphocephaly, the fusion occurs along the sagittal suture, which runs down the middle of the skull from the front to the back, where two bones fuse.¹ This fusion restricts normal skull growth, resulting in an abnormal head shape commonly described as a ‘boat-shaped’ head.¹ Knowledge about Scaphocephaly allows for early diagnosis, often within the first few months of a child's life, facilitating timely treatments and support. 

Causes of scaphocephaly

The specific causes of scaphocephaly are still not entirely understood, and most cases occur sporadically.¹ This being said, several factors have been studied and implicated with the development of various types of craniosynostosis, including genetic mutations, maternal smoking, advanced paternal age, and several others.¹ 

• Genetic Factors: Genetic mutations can predispose an individual to craniosynostosis, including scaphocephaly. These mutations may affect the development of bones and sutures in the skull, leading to premature fusion. More than 100 mutations have been associated with craniosynostosis.¹
• Environmental Factors: Premature fusion can occur spontaneously or due to various factors such as maternal smoking, certain medications or chemical substances, alcohol consumption, and even maternal thyroid disorders.³ 

Other than that, craniosynostosis is associated with more than 180 syndromes, many of which cause limb abnormalities alongside restricted skull growth.³

Diagnosis

Physical Examination is typically the first and most commonly used method to diagnose scaphocephaly, as it is easy to perform, and the results can immediately draw attention to any head abnormalities.²

• Patient History: Usually, the first indication of scaphocephaly is when the parents identify that a baby’s head looks unusual. This deformity typically looks worse as the child’s head continues to grow.¹
• Head Shape Assessment: Healthcare professionals, particularly paediatricians and specialists in craniofacial disorders, conduct a thorough examination of the infant's head shape and measurements of head circumference.² They look for the characteristic elongated and narrow shape associated with scaphocephaly
• Palpation of Sutures: Physicians gently palpate the baby's skull sutures to identify any premature fusion, which could be indicated by a bony ridge at the joint.¹  

The baby would also be evaluated for breathing difficulty, which could be caused by abnormal head extension, and an eye test should be performed to check the pressure inside the skull.¹ 

Following physical examinations, the next step could involve imaging techniques to confirm the diagnosis and determine the severity. The mildest form is ultrasonography, which can detect fused sutures without exposing the patient to radiation.¹ Other than that, other imaging techniques could include: 

• Plain Skulls X-rays: X-rays are often used as an initial imaging technique to assess skull abnormalities. They provide a 2D image of the skull, allowing healthcare professionals to visualize the fused sutures and abnormal head shape.¹ 
• Computed Tomography (CT) Scans: CT scans provide detailed cross-sectional images of the skull, offering a more comprehensive view than X-rays. They are especially useful for evaluating the extent of suture fusion and assessing the impact on adjacent brain structures. These can be used alongside 3D reconstruction technology, which would allow a clinician to view the skull in its entirety, which is most useful for a precise diagnosis and treatment plan.^1,2
• Magnetic Resonance Imaging (MRI): This method is not always advised, especially as it can be a source of radiation. However, in symptomatic cases, it would be used to view the brain and nerve structures, which would be significant in assessing mental development and any neurological abnormalities.^1,2 

Treatment and management

Non-surgical approaches like helmet therapy and physical therapy provide conservative options and would be the primary course of action in mild to moderate cases.⁴ Surgical interventions such as cranial vault remodelling or endoscopic surgery are more appropriate for severe cases, particularly in older patients.¹ 

• Helmet Therapy: Also known as cranial orthosis, helmet therapy involves the use of specially designed helmets to gently reshape the infant's skull over time. The helmet is custom-made to fit the baby's head snugly and applies gentle, constant pressure on the prominent areas of the skull while allowing unrestricted growth in other areas. Treatment duration varies but typically lasts several months. Helmet therapy is most effective for infants, particularly in the first 12 months of age, with mild to moderate scaphocephaly.⁴
• Physiotherapy: Physical therapy and alignment procedures are often used as the primary treatment for cranial abnormalities during early diagnosis. Despite this being effective in mild cases, it is typically accompanied by other treatment options for the best outcome.⁴ 
• Cranial Vault Remodeling Surgery: This is an open surgery that involves reshaping the skull bones to achieve a more natural head shape. Surgeons make precise incisions, remove the fused bone, and reshape the skull to allow for proper growth. Milder cases can be treated with the removal of the fused suture. However, more severe scaphocephaly may require a complete reshaping of the skull. Common risks include infection, bleeding, and anesthesia-related complications as in other forms of surgery.¹
• Endoscopic Surgery: For scaphocephaly, skull surgery can be performed endoscopically without the need for open surgery. This involves making small incisions and using specialized instruments and a camera to release fused sutures. Unlike traditional open surgery, this method minimizes scarring and reduces recovery time.¹

Children who have undergone conservative or surgical interventions require regular follow-up appointments with healthcare providers.¹ This could include regular imaging, such as X-rays or CT scans, to monitor skull growth progress and ensure that the head shape continues to develop normally.¹ Furthermore, in some cases, scaphocephaly can impact cognitive abilities and be associated with learning disabilities if the skull abnormalities cause increased intracranial pressure or developmental delays.1 Timely interventions, including surgeries or therapies, can mitigate cognitive challenges. However, patients may also reach out to the wide range of support groups available or to therapists.¹

Prevention and prognosis

The prognosis for children with scaphocephaly is generally positive with early diagnosis and comprehensive, multidisciplinary care, allowing them to lead fulfilling lives and reach their full potential.¹ Despite this, preventive measures like prenatal and genetic counselling could be offered to enable informed decision-making for expectant parents.¹ The diagnosis and treatment of craniosynostosis can have a significant impact on families, therefore a careful explanation of the treatment options and the disease itself could be beneficial when dealing with the initial struggles.¹ In some cases, genetic screening could be recommended to determine the presence of specific mutations associated with scaphocephaly If these are found, genetic counseling may be given to the parents.¹ A thorough evaluation helps determine if there's a genetic predisposition within the family.¹

Children with scaphocephaly require long-term multidisciplinary care involving surgeons, therapists, and paediatricians.¹ Continuous monitoring for at least five years is ideal for assessing the progressive skull reshaping and any therapeutic benefits.¹ This could also identify the need for follow-up revisional surgeries.¹ Other than the physical implications, some studies have shown that patients with scaphocephaly have a greater risk of developing cognitive and speech defects, motor problems, and mild neuropsychological deficits.¹ They may also struggle with reading and writing disabilities.¹ Despite this, patients with scaphocephaly are less likely to develop these additional problems compared to other types of craniosynostosis types, and generally lead normal lives, particularly with proper therapies and educational support.¹

Conclusion

Scaphocephaly is a congenital condition characterized by the premature fusion of the sagittal suture, leading to an elongated and narrow head shape. Diagnosis involves physical examination, imaging techniques (X-rays, CT scans, MRI), and evaluation of skull growth patterns through patient history. Non-surgical methods include helmet therapy and physiotherapy, however, in more severe cases, surgical interventions may be necessary. Long-term care may include monitoring skull growth, addressing developmental delays, and providing ongoing support to affected individuals and their families. Early diagnosis and intervention are paramount in managing scaphocephaly, ensuring optimal outcomes and a better quality of life for affected individuals. Ongoing research and advancements in both surgical and non-surgical treatments continue to shape the landscape of scaphocephaly care, promising improved outcomes and enhanced well-being for those diagnosed with the condition.