Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.
The estimated incidence is 1 case per 65-80,000 pregnancies.
- increased paternal age has been proposed
Apert syndrome was originally described as a triad of:
However, other features may include:
- tower-shaped head and prominent forehead
- intellectual retardation (IQ however can be normal)
- dehiscent jugular bulb
- enlarged emissary veins of the skull
Thought to occur from a defect on the fibroblast growth factor receptor 2 (FGFR2) gene, located on chromosome 10q26. It can be inherited as an autosomal dominant trait, although most cases are thought to be sporadic.
There are many abnormalities which may be visible on imaging including :
- craniosynostosis: brachycephaly
- facial hypoplasia
- syndactyly (tends to be complex)
Other more subtle features which may be evident include tower-shaped head and prominent forehead, hypertelorism and exophthalmos.
History and etymology
It is named after Eugene Apert (1868–1940) , French pediatrician, who described it in 1906, although some reports suggest it was first described by Wheaton in 1894 .
- congenital syndromes associated with enlarged ventricles
- Ausdünnung der Kalotte
- kongenitale Radiusköpfchenluxation
- orbital hypertelorism
- classification of paediatric midface anomalies
- craniofacial syndromes in children
- fibroblast growth factor receptor gene mutations