Syndromic Craniosynostosis Diagnosis [Neurosurgery Wiki]

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====== Syndromic Craniosynostosis Diagnosis ======

Diagnosing [[syndromic craniosynostosis]] is a multidisciplinary process that integrates clinical assessment, radiological findings, and genetic testing. Early and accurate diagnosis is crucial for guiding management and anticipating complications.

==== Clinical Evaluation ====

A detailed clinical history and physical examination are the foundation of diagnosis. Key clinical features include:

Multisuture craniosynostosis – as opposed to isolated sagittal or coronal fusion

Craniofacial anomalies – such as midface hypoplasia, orbital hypertelorism, or beaked nose

Limb anomalies – syndactyly (especially in [[Apert Syndrome]])

Airway abnormalities – snoring, apneas, stridor

Developmental delay – variable depending on the syndrome

Family history – may suggest autosomal dominant inheritance

==== Radiological Assessment ====

Imaging plays a central role in confirming suture fusion and identifying associated malformations:

[[CT]] scan with 3D reconstruction – gold standard for evaluating suture fusion patterns and skull morphology

[[MRI]] – assesses brain development and associated conditions like [[Chiari Malformation]], [[Hydrocephalus]], or [[Skull Base Anomaly]]

Lateral skull X-ray – may provide initial clues in neonates

Key features to assess include:

Shape of the cranial vault

Patency of cranial sutures

Volume of posterior fossa

Presence of [[Platybasia]], [[Basilar Invagination]], or other [[Craniovertebral Junction]] anomalies

==== Genetic Testing ====

Molecular confirmation is essential to distinguish between syndromic and non-syndromic forms:

Targeted gene panels or whole-exome sequencing

Common mutations involve FGFR1, FGFR2, FGFR3, TWIST1, and others

Syndromic forms often have known gene associations:

[[Crouzon Syndrome]] → FGFR2

[[Pfeiffer Syndrome]] → FGFR1 / FGFR2

[[Apert Syndrome]] → FGFR2

[[Saethre Chotzen Syndrome]] → TWIST1

Genetic counseling is recommended for affected families.

==== Multidisciplinary Team Involvement ====

Diagnosis and follow-up should involve:

[[Neurosurgery]]

[[Craniofacial surgery]]

[[Clinical genetics]]

[[Pediatrics]]

[[Otolaryngology]], [[Ophthalmology]], and [[Pulmonology]] as needed