The Results Are In, Pfeiffer Syndrome It Is

Jameson’s blood test came back today and confirmed that it is in fact Pfeiffer syndrome that he has.  So what exactly is Pfeiffer Syndrome and how did this happen?

Pfeiffer syndrome

Pfeiffer syndrome is a disorder that involves craniosynostosis – premature fusion of the fibrous joints of the bones in the skull, and the shape of the hands and feet.

Pfeiffer syndrome happens when there is a mutation of either the FGFR1 of FGFR2 genes.  These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development.  A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet.

FGFR1 is located on Chromosome 8, and FGFR2 is located on Chromosome 10.  Interestingly, there are other health conditions related to these genes as well as Pfeiffer syndrome.  FGFR1 is also associated with Kallmann syndrome – which deals with puberty and smell;  FGFR1 has also been found to be involved with a number of types of cancers (stomach, prostate, pancreatic, esophageal, ovarian, testicular, breast, and head and neck cancers).  FGFR2 is also associated with Apert syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Beare-Stevenson syndrome, and it is also related to cancer as well.

So, what happens to the person affected by this gene mutation?

Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. 50% of children with Pfeiffer syndrome have hearing loss; dental problems and vision problems are also common.

In people with Pfeiffer syndrome, the thumbs and great toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).

The three types of Pfeiffer syndrome

Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene, and have not been associated with changes in the FGFR1 gene.

Type 1 is considered to be the mild form of Pfeiffer’s.  People born with Type 1 have the fused sutures in their skull, the recessed mid-face, and the finger and toe abnormalities.  Their neurological development and intelligence are normal though.

Type 2 and Type 3 are considered the severe forms of Pfeiffer’s.  The difference between the two is that Type 2’s are born with a cloverleaf shaped head, and more extensive fusing of the skull.  In both types there are problems with the nervous system and there are neurological and developmental problems.

How does this end up happening?

Although it is a genetic disorder it is not necessarily inherited.  In fact, more than 90% of the time it occurs from a new mutation where there is no family history.  Basically, when Jameson was conceived and the embryo began to write his DNA there was a blip on one of these chromosomes and there was a misspelling with one of these genes.  From what I took from our meeting with the geneticist, we have over 200,000 genes that are coded when an embryo forms and there are “misspellings” in almost everyone, but depending on what gene it happens on determines whether it’s a big oops or a little oops and whether it will ever even be noticed.

The chances of this happening are 1 in 100,000 – the same odds a person has getting hit by lightning.  Now, for Jameson, since he has the disorder he would have a 50/50 chance of passing it on if he were to have children.

Which type is Jameson?

Well, right now we don’t have a conclusive answer to this.  The geneticist believes that he is a Type 1.  We believe that too, just based on what we have seen so far and because he hasn’t any of the other medical issues associated with Pfeiffer’s – yet (crossing our fingers everyday).  The test results confirming Pfeiffer syndrome just came in, and the geneticist said he is going to analyze them and do further investigating on whether he can pinpoint exactly whether Jameson’s mutation is on FGFR1 or FGFR2.  I think the only way to actually confirm this would be if his mutation was found on FGFR1.  So, we’ll see if he finds out anything new.

sources:  NIH, CCA

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