Diagnosis of Craniosynostosis
Diagnosis of craniosynostosis typically begins with a visual and physical assessment of the infant’s skull shape and growth pattern. Since craniosynostosis often presents with noticeable head asymmetry or ridges along the sutures, early detection is often possible during routine check-ups in the first months of life.
Physical Examination
A paediatrician will:
Examine the baby’s head shape and symmetry
Feel for ridges or hardened sutures
Measure head circumference and compare it to age-based growth charts
Assess fontanelles (soft spots) for early closure
The presence of a non-growing or oddly shaped skull, combined with a visible or palpable ridge, often prompts further investigation.
Imaging Tests | Diagnosis of Craniosynostosis
To confirm the diagnosis and assess the extent of the condition, the following imaging tools are used:
X-rays: May show early suture closure or overlapping skull bones
CT scans with 3D reconstruction: The gold standard for confirming craniosynostosis, showing detailed skull structure and fused sutures
MRI: Used if there are concerns about brain development or soft tissue involvement
Genetic Testing
In suspected syndromic cases—where craniosynostosis is accompanied by limb abnormalities, facial differences, or developmental delays—genetic testing may be recommended. This can identify mutations in genes like FGFR2, FGFR3, or TWIST1 and help guide long-term care planning.
Differential Diagnosis
Doctors must distinguish craniosynostosis from other causes of abnormal head shape:
Positional plagiocephaly: Caused by lying in the same position, but sutures remain open
Hydrocephalus: Enlarged head due to fluid build-up
Other cranial malformations or syndromes
Multidisciplinary Involvement
Diagnosis is usually confirmed and managed through a team that may include:
Paediatricians
Neurosurgeons
Craniofacial surgeons
Geneticists
In summary, diagnosis of craniosynostosis is based on clinical examination and imaging. Accurate diagnosis ensures proper treatment planning and helps prevent complications related to increased intracranial pressure or delayed brain development.
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