Scaphocephaly, also known as “dolichocephaly,”(boat shaped head) is a craniosynostosis where a baby’s skull’s sutures close prematurely, affecting the head’s shape. The sagittal suture, which runs from the front to the back of the skull, fuses too early, causing the head to grow longer and narrower than usual. The condition is usually diagnosed in infancy and may require surgical intervention to correct the skull’s shape and prevent brain development complications. The exact cause of this premature fusion is not always known, but the premature closure of the sagittal suture primarily causes it.
Leading causes of Scaphocephaly among babies:
- Mutations :
Apert Syndrome, caused by mutations in the FGFR2 or FGFR3 genes, is characterised by early fusion of multiple cranial sutures, leading to various skull deformities, intellectual disability, hearing loss, and skin abnormalities.
Crouzon Syndrome, caused by mutations in the FGFR2 or FGFR3 genes, includes premature closure of cranial sutures, resulting in a high forehead, wide-set eyes, and a beaked nose.
Pfeiffer Syndrome, caused by mutations in the FGFR1 or FGFR2 genes, includes early closure of sutures, leading to a broad, short skull shape.
Metopic Synostosis, associated with genetic mutations, results in a triangular forehead and narrow skull shape, possibly including Scaphocephaly.
Craniosynostosis is a genetic condition characterized by abnormalities in the skull, often caused by a combination of inherited genetic factors and spontaneous mutations. The condition can be inherited from either parent, with autosomal dominant inheritance. Genetic testing can identify specific gene mutations linked to craniosynostosis, confirming the diagnosis and understanding the underlying cause. Genetic counselling can provide information about the likelihood of recurrence in future pregnancies and available testing options. Ongoing research is ongoing to better understand the genetic mechanisms underlying craniosynostosis and Scaphocephaly, with advances in genetic testing and sequencing improving the diagnosis and management of these conditions.
Genetic factors significantly influence scaphocephaly development, with associated syndromes and familial predispositions. Understanding these influences aids in diagnosing, managing, and providing genetic counselling to affected families.
- Environmental factors:
Smoking during pregnancy increases the risk of congenital abnormalities, including craniosynostosis, such as Scaphocephaly. The harmful chemicals in tobacco smoke can affect foetal development, potentially leading to premature fusion of cranial sutures. Certain medications, such as anticonvulsants and retinoids, have been linked to an increased risk of congenital abnormalities. Folic acid deficiency during pregnancy is also a risk factor for craniosynostosis, as it is crucial for neural tube development and can lead to congenital disabilities. Poor maternal nutrition during pregnancy can also contribute to abnormal foetal development. Intrauterine constraints, such as abnormal positioning in the womb, can exert pressure on the skull, leading to abnormal skull shaping and early fusion of sagittal sutures. A low level of amniotic fluid (oligohydramnios) can restrict foetal movement and space, potentially leading to cranial abnormalities.
Environmental factors during pregnancy, such as exposure to pesticides or heavy metals, diabetes or thyroid disorders, and certain foetal infections, may increase the risk of craniosynostosis. However, the evidence is not conclusive, and the connection between these factors and craniosynostosis is still under investigation. It’s important to note that Scaphocephaly often occurs sporadically, and no specific environmental cause can be identified. These factors may not be well-established, and further research is needed to determine the exact cause.
- Foetal positioning:
Foetal positioning during pregnancy can lead to Scaphocephaly and other forms of craniosynostosis. If the uterus has limited space, the baby may be positioned in a way that puts pressure on the developing skull. It can occur in multiple pregnancies, where there is less room for each baby to grow. This pressure can cause abnormal shaping and, in some cases, early fusion of the sagittal suture, resulting in Scaphocephaly. Babies in breech positions or other unusual positions may also experience abnormal pressure on certain parts of the skull, influencing the head’s shape and potentially contributing to scaphocephaly development.
Oligohydramnios is a condition where the baby’s amniotic fluid levels are low, causing confinement and pressure on the skull. This can lead to craniosynostosis, including Scaphocephaly. Multiple gestations can reduce space for each baby, increasing the risk of abnormal skull shaping and premature suture closure. Uterine shape or size can also affect the baby’s movement, restricting movement and potentially contributing to Scaphocephaly. Abnormalities in the uterus shape or size, such as a bicornuate uterus or fibroids, can also contribute to this condition.
Foetal growth restriction (FGR) can affect foetal positioning, leading to abnormal pressures on the skull and potentially contributing to craniosynostosis, including Scaphocephaly. foetal positioning is just one factor in Scaphocephaly, but it underscores the importance of the mechanical environment during pregnancy. In many cases, Scaphocephaly is caused by a combination of factors, and foetal positioning alone may not be enough. Understanding foetal positioning can help identify and manage pregnancy risks.
- Random occurrence:
Scaphocephaly is a condition that occurs spontaneously without any identifiable cause or risk factors, often due to natural variations in foetal development. It is usually unrelated to genetic factors, environmental influences, or foetal positioning. Many babies with Scaphocephaly do not have a family history of craniosynostosis or related conditions, indicating a spontaneous occurrence. Most cases of Scaphocephaly are non-syndromic, meaning they are not associated with any underlying genetic syndromes or medical conditions. These sporadic cases make up the majority of scaphocephaly instances and often occur as isolated events. The risk of recurrence in future pregnancies is generally low in random occurrences.
Craniosynostosis, including Scaphocephaly, is often attributed to random occurrence, where the condition arises spontaneously without a clear cause. This is a common explanation for cases where no specific cause can be identified through genetic testing, family history, or environmental assessment. Despite ongoing research, many instances of Scaphocephaly are considered natural variations in skull development.
Prognosis:
Scaphocephaly is generally good, especially when treated early. Most children undergoing surgery have normal cognitive development and improved head shape. Without treatment, risks of increased intracranial pressure may arise, potentially leading to developmental delays or neurological issues.
Scaphocephaly is generally good, especially when treated early. Most children undergoing surgery have normal cognitive development and improved head shape. Without treatment, risks of increased intracranial pressure may arise, potentially leading to developmental delays or neurological issues.
About Dr Vishakha Karpe :
Dr. Vishakha Karpe, a highly skilled Senior Paediatric Neurosurgeon at Rainbow Children’s Hospital, Banjara Hills, and Hyder Nagar in Hyderabad, is one of India’s leading paediatric neurosurgeons with extensive experience in paediatric neurosurgery. With over ten years of dedicated practice, she is among the few in India working extensively and exclusively in this field. She has a keen interest in craniosynostosis surgery.
She focuses on comprehensive care, including precise surgery and educating parents about the complete case management protocol.
Proficiency of Dr Vishakha:
Hydrocephalus (increased fluid in the brain): The procedure involves an endoscopic third ventriculostomy and CSF diversion (VP shunt) to treat complex hydrocephalus.
- Craniosynostosis (abnormal head shape due to untimely cranial sutures fusion) surgeries: Helmet therapy is a technique that is used in both endoscopic and open surgery.
- Spinal dysraphisms(Spina Bifida)- (spinal abnormalities present by birth) – surgical repair
- Encepahaocles repair surgery.
- Vascular conditions and stroke surgeries: revascularization surgeries for moya moya disease.
- Pediatric brain and spine tumour surgeries.
- Pediatric brain and spine infection surgeries: Endoscopic and open surgeries for brain and spine infections.
- Pediatric traumatic brain and spinal injury.
- Antenatal counselling for congenital fatal neurosurgical conditions.
