Apert syndrome
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Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterised by skull and limb malformations.
Epidemiology
The estimated incidence is at 1:65-80,000 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.
Risk factors
- increased paternal age has been proposed 6
Associations
Radiographic features
There are many of which the classic triad includes 3:
- craniofacial
-
limb
- syndactyly (tends to be complex)
Other features include:
- tower shaped head and prominent forehead
- hypertelorism
- mental retardation (IQ however can be normal)
- exopthalmos
History and etymology
NamedIt is named after Eugene Apert, French physician, 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 acrocephalopolysynactyly:
-</ul><h4>History and etymology</h4><p>Named after <strong>Eugene Apert</strong>, French physician, in 1906 although some reports suggest it was first described by Wheaton in 1894 <sup>2</sup>.</p><h4>Differential diagnosis</h4><p>The differential includes other forms of <a href="/articles/acrocephalosyndactyly">acrocephalosyndactyly </a>and <a href="/articles/acrocephalopolysyndactyly">acrocephalopolysynactyly</a>:</p><ul>- +</ul><h4>History and etymology</h4><p>It is named after <strong>Eugene Apert</strong>, French physician, in 1906 although some reports suggest it was first described by Wheaton in 1894 <sup>2</sup>.</p><h4>Differential diagnosis</h4><p>The differential includes other forms of <a href="/articles/acrocephalosyndactyly">acrocephalosyndactyly </a>and <a href="/articles/acrocephalopolysyndactyly">acrocephalopolysynactyly</a>:</p><ul>
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