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How is Apert syndrome diagnosed?

Updated: 8/9/2023
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12y ago

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The characteristics of individuals with Aperts syndrome have the webbing of fingers and toes, or possibly, a cranial malformation, This webbing is caused by apoptosis, which is selective cell death, causing separation of the digits. With the head it is called cranialsynostosis. Some symptoms of cranialsynostosis is a high and prominent forehead with a flat posterior skull. Due to the premature closing of the coronal sutures, increased cranial pressure can develop as a result of deficient growth.They also have low set ears, shallow bony orbits and broadly spaced eyes.

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Q: How is Apert syndrome diagnosed?
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Related questions

What is syndactyly a symptom of?

Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome


How do you get Apert syndrome?

Apert syndrome is a genetic defect, so that means that the child will have it from conception (it's an autosomal dominant genetic defect, which means that only one parent needs to supply the defective gene in order for the child to be born with it.)


What other conditions could an infant with syndactyly have?

Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.


When was Apert syndrome first discovered?

Apert Syndrome was first discovered by a French Physician named Eugene Apert in 1906 when he described nine different individuals with common characteristics and attributes.These patients were suffering from acrocephalosyndactyly, wherein the bone or skin between the toes and fingers fuses together because no selective cell death is taking place.


Is apert syndrome dominant or recessive?

Recessive, but dominant in some rare cases.


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Brown-Sequard syndrome is diagnosed based on the patient's medical history and a physical examination


When did Eugène Apert die?

Eugène Apert died in 1940.


When was Eugène Apert born?

Eugène Apert was born in 1868.


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