syndromic craniosynostosis
Pronunciation: SIN-dro-mik kray-nee-o-sin-os-TO-sis
Premature fusion of skull sutures associated with genetic syndromes, often involving multiple sutures and requiring multidisciplinary care.
Full Definition
Syndromic craniosynostosis refers to premature fusion of one or more cranial sutures as part of a recognizable genetic syndrome. Unlike non-syndromic craniosynostosis, these conditions typically involve multiple sutures and are associated with other developmental abnormalities. Common syndromes include Crouzon, Apert, Pfeiffer, and Saethre-Chotzen syndromes, each caused by mutations in fibroblast growth factor receptor (FGFR) genes or TWIST1. These patients require multidisciplinary care involving neurosurgery, plastic surgery, ophthalmology, and genetics. Management focuses not only on cranial vault remodeling but also on addressing associated complications such as increased intracranial pressure, airway obstruction, and visual problems.
Usage
Usage note: Distinguish from isolated or non-syndromic craniosynostosis, which typically involves single sutures.
In Context
- "Genetic testing confirmed Apert syndrome as the cause of syndromic craniosynostosis." — Craniofacial team evaluation
- "Multidisciplinary planning was initiated for syndromic craniosynostosis management." — Pediatric neurosurgery consultation