Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.
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Epidemiology
The estimated incidence is 1 case per 65-80,000 pregnancies.
Risk factors
increased paternal age has been proposed 6
Associations
Clinical presentation
Apert syndrome was originally described as a triad of:
maxillary hypoplasia
However, other features may include:
tower-shaped head and prominent forehead: in severe cases causing a "cloverleaf skull" deformity
intellectual disability (although IQ can be normal)
enlarged emissary veins of the skull
Pathology
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.
Radiographic features
There are many abnormalities which may be visible on imaging including 3:
-
craniofacial
-
limb
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) 7, French pediatrician, who described it in 1906, although some reports suggest it was first described by Wheaton in 1894 2.
Differential diagnosis
The differential includes other forms of acrocephalosyndactyly and acrocephalopolysyndactyly:
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