Apert syndrome

A congenital genetic disorder marked by premature fusion of skull sutures and fusion of fingers and toes. It is usually caused by a pathogenic variant in FGFR2.

FGFR2: FGFR2 is a gene encoding a receptor that helps regulate cell growth and bone development. Most cases arise from FGFR2 variants that alter signaling during skeletal development.
Cranial suture: A cranial suture is a fibrous joint connecting adjacent bones of the skull. The timing and location of suture closure determine the skull changes in Apert syndrome.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with a condition. Testing FGFR2 can confirm the molecular diagnosis of Apert syndrome.
Crouzon syndrome: Crouzon syndrome is a genetic craniosynostosis disorder commonly caused by FGFR2 variants, typically without syndactyly. Its craniofacial features overlap with Apert syndrome, but fused digits are not characteristic.
Eugène Apert: Eugène Apert was a French pediatrician who described the syndrome now bearing his name in 1906. His clinical report established the recognizable combination of skull and digit abnormalities.
Craniosynostosis: Craniosynostosis is the premature fusion of one or more fibrous joints between skull bones. It is the skull abnormality at the center of Apert syndrome.
Limb development: Limb development is the embryonic process that forms the arms, legs, hands, and feet. Apert syndrome disrupts separation of developing digits.
Cranial vault remodeling: Cranial vault remodeling is surgery that reshapes the skull and creates space for the growing brain. It can treat cranial restriction caused by premature suture fusion.
Pfeiffer syndrome: Pfeiffer syndrome is a genetic disorder involving craniosynostosis and characteristic broad, deviated thumbs and great toes. It shares FGFR-related skull abnormalities but has a different characteristic limb pattern.
Michael Cohen (geneticist): Michael Cohen was a medical geneticist who helped characterize Apert syndrome and other craniofacial disorders. His clinical work helped define the syndrome’s features and inheritance.

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