Pfeiffer Syndrome

What Is The Cause Of Pfeiffer Syndrome (2)

What Is The Cause Of Pfeiffer Syndrome?

Pfeiffer syndrome is a rare case condition affecting primarily the facial bones and the skull.

In most cases, the above genetic disorder leads to premature fusion of certain types of skull bones, commonly referred to as craniosynostosis.

This condition prevents the skull from developing normally and it affects the shape of the face and head.

Medical doctors also report that Pfeiffer Syndrome affects feet and hands as well.

Since the above disorder is one of the rarest condition in human history (in fact, Pfeiffer syndrome occurs in 1 out of 100,000 births), it is quite difficult to diagnose it.

However, there are some distinct characteristic facial features that leads to conclusion that a patients might be suffering from the disorder aforementioned.

Apart from the premature fusion of the facial and skull bones, other features to look for include bulging & wide-set eyes, underdeveloped upper jaw, a high forehead, and a beaked nose.

In addition, research has shown that more than half of all infants with Preiffer Syndrome have dental problems and hearing loss.

What is the cause of Pfeiffer syndrome?

What Is The Cause Of Pfeiffer Syndrome (1)The above syndrome is caused by mutations of receptor genes, mostly FGFR-1 and/or FGFR-2 in the fibroblast.

These two genes are found in chromosomes 8 and 10 in that order. Generally, the kind of mutations causing the above syndrome occur sporadically and randomly.

The truth of the matter is that medical scientists and doctors have not known the cause of this mutation.

Other school of thought explains there is a possibility that infants with the above condition passes the gene on to other infants.

Under this theory, the mutation gene is passed on in a process called an autosomal dominant fashion. In this case, one copy of the either of aforementioned genes need to be passed on for the new infant to have the above syndrome.

In an ideal situation, the autosomal dominant inheritance states that there is a 50-50 chances that a parent suffering from the condition will give birth to a child with Preiffer syndrome.Therefore, it is highly recommended that any person with the above condition who wish to have children should consider seeking advice and discuss the associated risks with a geneticist.


Based on the appearance of skull and face, the suspected diagnosis can only be confirmed by conducting genetic testing.

However, all is not vain since there are some eminent ways of correcting midface and skull abnormalities.