====== 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