Professional
Technical
IVT
apert syndrome
Pronunciation: AY-pert SIN-drome
A genetic disorder characterized by premature fusion of skull sutures and syndactyly of hands and feet.
Full Definition
Apert syndrome is a rare congenital disorder caused by mutations in the FGFR2 gene, resulting in craniosynostosis and characteristic facial features including midface hypoplasia, proptosis, and downslanting palpebral fissures. The condition also involves syndactyly of the hands and feet, requiring multidisciplinary surgical management throughout childhood. Craniofacial reconstruction typically involves multiple staged procedures to address both functional and aesthetic concerns.
Usage
Usage note: Always capitalize 'Apert' as it is an eponym.
In Context
- "The patient with Apert syndrome required staged cranial vault expansion followed by midface advancement." — Surgical case report
- "Apert syndrome presents with characteristic mitten-hand deformities requiring complex hand reconstruction." — Medical documentation
Also known as
acrocephalosyndactyly type I
Don't confuse with
Crouzon syndrome
Pfeiffer syndrome