Craniosinostose

Craniosinostose is the premature fusion of one or more cranial sutures, a condition that can restrict skull growth and, in some cases, affect brain development. It occurs in about 1 in 2,000 to 2,500 live births and can be isolated (nonsyndromic) or part of genetic syndromes (syndromic). Most cases are nonsyndromic, but several genetic conditions are associated with multiple sutures fusing early.

The condition is classified by which sutures are involved: sagittal, coronal, metopic, and lambdoid. The resulting skull shapes are characteristic: sagittal fusion often causes scaphocephaly (long, narrow head); metopic fusion can lead to trigonocephaly (triangular forehead); unilateral coronal or lambdoid fusion may cause plagiocephaly (asymmetry); bicoronal fusion can cause brachycephaly (flattened top of the head). Sagittal synostosis is the most common form. Syndromic craniosynostosis is linked to mutations in genes such as FGFR2, FGFR3, TWIST1, and EFNB1, among others.

Diagnosis is usually suggested by infant head shape and confirmed with imaging, typically CT with 3D reconstruction, sometimes supplemented by MRI to assess brain anatomy. Early detection allows timely planning of treatment.

Treatment depends on severity, number of involved sutures, and age. Many cases require surgical correction to release the fused suture and reshape the skull. Approaches include open cranial vault remodeling and less invasive endoscopic strip craniectomy followed by postoperative molding helmet therapy. Non-surgical management is not appropriate for true craniosynostosis, though helmet therapy may be used for certain mild or associated deformities. Multidisciplinary follow-up is important to monitor growth, development, and intracranial pressure, especially in syndromic cases.