Craniosynostosis

Craniosynostosis is a condition present at birth in which one or more skull sutures, the flexible joints between an infant’s skull bones, fuse earlier than expected. Because the fused area cannot expand normally, skull growth may be redirected toward the remaining open sutures, changing the shape of the head. It is often recognized at birth or during the first months of life, although some cases become clearer as the child grows. Some children have an isolated form affecting one suture, while others have syndromic craniosynostosis linked with genetic conditions and additional differences.

Signs may be noticed at birth or during the first months of life, and some become more apparent as the skull grows. The appearance varies according to which suture is affected, including patterns seen in sagittal craniosynostosis, metopic craniosynostosis, and lambdoid craniosynostosis.

The exact cause of many cases is unknown. During skull development, abnormal signaling between bone-forming cells and the skull sutures can cause one or more sutures to close too early. This premature fusion changes how the skull can expand as the brain grows.

Genetic and syndromic forms

Isolated craniosynostosis commonly involves one suture, such as the sagittal or metopic suture, without other major birth differences. Syndromic craniosynostosis may involve multiple sutures and gene changes or conditions affecting several body systems, with additional facial, limb, airway, or neurologic findings.

Most affected families did nothing to cause craniosynostosis, and many cases cannot be predicted or prevented. A genetic consultation may be appropriate when multiple sutures are involved, related birth differences are present, or there is a family history.

The risk of complications depends on the number and location of fused sutures, whether a syndrome is present, and how promptly the child is evaluated and treated. Regular monitoring helps the care team identify problems with skull growth, development, vision, breathing, or feeding.

Evaluation begins with a medical history and physical examination. The clinician checks head shape and growth, looks and feels for ridges over the sutures, assesses the soft spot (fontanelle), and examines facial symmetry and eye position. Developmental assessment can help identify concerns that need further evaluation.

Imaging and specialist assessment

Low-dose CT or other imaging may be used to confirm which suture has fused and to plan care, especially when the examination is not conclusive. Clinicians also distinguish craniosynostosis from positional head-shape changes. Genetic testing or assessment by genetics, ophthalmology, neurosurgery, and craniofacial specialists may be recommended when multiple sutures or other physical findings suggest a syndrome.

Care is coordinated by a craniofacial team. Selected mild cases may be monitored closely, but many infants need craniosynostosis surgery to create room for brain growth and improve skull shape. Decisions depend on the child’s age, the affected suture, skull shape, severity, overall health, and whether a syndrome is present.

Surgical approaches

Follow-up may include monitoring head growth, neurologic development, vision, hearing, breathing, and dental or facial development. Children with a syndrome or a remaining skull-shape concern may need additional procedures or coordinated care from several specialists.

Many children with isolated, appropriately treated craniosynostosis have favorable outcomes. Prognosis varies with the number of fused sutures, the timing of treatment, the child’s development, and whether a genetic syndrome is present. Ongoing follow-up remains important even after craniosynostosis surgery.