Why is it called Pfeiffer syndrome?

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asked Sep 30, 2023 in Diseases Conditions by chickenricky (1,260 points)
Why is it called Pfeiffer syndrome?

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answered Mar 26 by Withoutbinds (10,420 points)
The reason it's called Pfeiffer syndrome is because the name for Pfeiffer syndrome was named after German geneticist named Rudolf Arthur Pfeiffer.

Rudolf Arthur Pfeiffer first described Pfeiffer syndrome's distinctive features in the year 1964.

Dr. Pfeiffer first described Pfeiffer syndrome in 1964, which is characterized by early fusion of the bones of the skull also known as craniosynostosis and leads to abnormalities of the head and face and also abnormalities of the hands and the feet.

Pfeiffer syndrome is also called and known as acrocephalosyndactyly-Pfeiffer type, which means tall head with variable fusion of the fingers.

Pfeiffer syndrome is inherited in an autosomal dominant pattern which means that if one parent has Pfeiffer syndrome then there's also a 50 percent chance that their child or children will also inherit Pfeiffer syndrome.

Pfeiffer syndrome is rare with an incidence of around 1 in 100,000 births.

Those born with type 1 Pfeiffer syndrome have a normal life expectancy although people born with type 2 and type 3 Pfeiffer syndrome often face more complications and have a shorter life expectancy if the condition is not treated.

Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones.

And abnormal growth of the skull bones leads to bulging and wide set eyes, a high forehead and also an underdeveloped upper jaw and a beaked nose.

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