Causes of Craniosynostosis
Causes of craniosynostosis can be genetic, environmental, or a combination of both. While many cases arise without a known reason, understanding the underlying mechanisms can help parents and healthcare providers identify the condition early. Craniosynostosis occurs when one or more cranial sutures close too soon, disrupting normal skull and brain growth.
Genetic Factors | Causes of Craniosynostosis
Approximately 15–30% of cases are associated with known genetic syndromes, such as:
Apert syndrome
Crouzon syndrome
Pfeiffer syndrome
Muenke syndrome
These syndromic forms of craniosynostosis often involve multiple sutures and come with other physical abnormalities, such as limb deformities or facial asymmetry. Mutations in genes such as FGFR2, FGFR3, and TWIST1 have been identified as common culprits.
Non-Syndromic Causes
In most cases, craniosynostosis occurs in isolation, without other medical conditions or inherited traits. These non-syndromic cases may result from:
Spontaneous gene mutations
Intrauterine constraints, such as limited space in the womb
Abnormal foetal positioning
Multiple pregnancies, which increase pressure on the baby’s head
Environmental Factors
While not as well-established, certain environmental factors may contribute to craniosynostosis, including:
Maternal smoking
Advanced paternal age
Certain fertility treatments
Use of specific medications during pregnancy
More research is needed to fully understand how these factors interact with genetic predispositions.
Prematurity and Metabolic Disorders
Some premature infants are at greater risk due to altered bone development. Additionally, metabolic disorders affecting calcium or phosphate levels can influence early suture fusion.
In conclusion, causes of craniosynostosis vary widely, ranging from genetic mutations to external pressures and unknown factors. Recognising risk factors helps guide screening, especially in newborns with abnormal head shapes or family history of related conditions.
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