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Apert syndrome

Dr MT Niknejad and Dr Yuranga Weerakkody et al.

The Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome predominantly characterised by skull and limb malformations.

Epidemiology

The estimated incidence is at ~ 1 : 65000 - 80000 pregnancies.

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.

Postulated risk factors

increased paternal age ⁶

Associations

Radiographic features

There are many of which the classic triad includes : ³

cranio-facial
- craniosynostosis : brachycephaly
- facial hypoplasia / retrusion
limb
- syndactyly : tends to be complex

Other features include :

tower shaped head / prominent forehead
hypertelorism
mental retardation (IQ however can be normal)
exopthalmos

Etymology

Named after Eugene Apert : French physician in 1906 although some reports say it was first described by Wheaton in 1894 ².

Differential diagnosis

The differential includes other forms of acrocephalosyndactyly and acrocephalopolysynactyly such as

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