Pfeiffer Syndrome

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.


sources:  NIH, CCA

42 thoughts on “Pfeiffer Syndrome

  1. What a beautiful child! My heart hurt reading about how others can be inadvertently hurtful. Thank you for the wonderful advice on how to handle these types of situations. Although I’m teaching my kids to accept differences in others I really hadn’t thought to do what you suggested and it makes so much more sense to introduce ourselves to another child. I pray Jameson grows up happy and healthy and I’m certain he will with a mom like you. You rock!

  2. I had never heard of the disease and I thank you for posting your story about your little boy.

  3. He’s just a cute little boy! I bet he is funny and laughs so sweetly! I mean he is just an awesome looking kid! I can say my son might ask me “what’s wrong?” but I would tell him I don’t know and then ask if I felt comfortable. I would even encourage a response like why don’t you go talk to him and find out. My son is very shy and might not but I often feel like it is embarrassing and tiring for the parent too. Keep going and tell Jameson he’s just awesome from our family! (I have a Jamison too :))

  4. Your story has touched my heart as I’m sure it has others. It was interesting to me your suggestion in responding to people’s uncertainties when seeing your little angel. I’m sure it will work with you if people or children approach you. Unfortuneately I have been in circumstances whereby I enquired whether my help was needed to a disabled person and was rudely told off which made me think twice before offering because I do not want to come across as offensive. God bless your family. With such positive upbringing I’m sure Jameson will change things around in his favour. A similar inspiring story is Nick Vujicic. It’s worth watching and so inspiring. Take care

  5. I just read the story on Huffington Post via my Yahoo news page and then clicked your link to this page. There are two things that radiate from the picture of Jameson: the brightness and happiness in his eyes and his precious dirty little face. I am so thrilled he has reasons to smile and that he plays and gets dirty!! He is blessed to have you as his mother and by his side to navigate this world! Thank you so much for sharing his picture and the story about him and his life.

  6. Thank you for sharing. My 4 year old is starting to notice differences and openly point them out. It is humiliating when your child does this and sometimes even scary (because you never know how angry someone might get) and I have often told him “there is a nicer way to notice differences” and then gone on to explain different ways to verbalized what he is trying to tell me. I also often tell him “yes, everyone is a little different from each other but he/she is just a kid like you. Maybe they want to play?” Varied success of course but I wish more people would do the same…and more parents were like you, forgiving of normal reactions from young children and open to giving them a chance to adjust their response. Not all moms are like that, so good on you. (I think Jameson is beautiful…).

  7. The horrors! Not all the somemores made it to his taste buds and tummy! 😉 But seriously, he has adorable eyes. Not so seriously, he looks like a living Yoda, so “off show him and lessons keep teaching” because the insensitive buffoons obviously need his help.

  8. I loved reading this story and very close to my heart bringing tears to my eyes as it is like writing my own story as we have a son who is now nearly 14 with the same condition. Type 1 Pfeiffer syndrome. He has had his skull reconstructed at nearly 4 and hIs ears pinned back with a bit of reconstruction too. He will have more surgery in about 2 years and going orthodontic procedures this year. All making Jonathans appearance better for him. He himself wants these operations because of people staring etc. He was always called fish eyes. Not nice but all it is is ignorance. This is a rare condition and until people understand it there will always be stares and name calling. We understand it oh so well. We live with it everyday. Its very hard as a parent to see you child cry and not be accepted by peers just because they are different. These older years are even harder as Jonathan is starting to change in different ways. Hormones etc. They are the same as a ‘normal’ child….. I will continue to read your post. I applaud you for teaching those who never heard about Pfeiffer Syndrome. We live in Ireland so just letting you know you and Jameson got friends here too… Shirley and Jonathan xx

  9. Some say children pick their parents. Obviously Jameson couldn’t have made a better choice!

  10. I came across your beautiful son’s story. Every child is a blessing and God choses right mama’s for right babies. <3 He sure picked the right blessing for you. It takes a lot of love to raise a child. Jameson is just like any other kid with his ups and downs.. all he needs is love. I am sending mine from Ukraine. My best wishes for your sweet baby Jameson. May he continue to bring happiness to your life.

  11. Your son’s picture caught my eye as I was reading another article on the Huffington webpage. One of my school classmates, 40+ years ago, looked a lot like your Jameson. I can’t say I knew him well – he was into sports and I was into books – but as part of a group of maybe 40 kids who shared classes in a small town K-12 type school, I do remember him as one of the kids I grew up with. I’ve learned something of what he might have been facing, thanks to your website.

    My own kids are bi-racial and bi-cultural. I know it’s not the same thing – but there is this. I told my kids, growing up, that “people are different, and that’s ok”. We said it every time a “difference” was noticed, whether it was physical or a difference in outlook/culture. When my son commented, on a trip to meet his grandparents in W Africa, on how different they were from his midwestern USA grandparents. When my daughter’s new friend said I wasn’t her mother because I’m white and she has dark skin. And so on.

    It came around, happily, when my daughter was the first to welcome a disabled classmate into her pre-school class. Her teacher told me everyone was just standing there looking at the new boy’s wheelchair when my daughter announced “People are different, and that’s ok” and asked him if he wanted to help with a puzzle.

    God bless you and your family.

  12. I understand everything you are saying. My grandson was born with Sathre-Chotzen Syndrome and some of the same features you discribed were present in this syndrome. I know how people are and most don’t mean to say something that hurts but unfortunately it happens. Bless you and your family especially Jameson. He is blessed to have a mom like you.

  13. I am very touched by your story, your bravery and courage. I also appreciate very much your recommendations on how to handle negative comments from children who meet your son, most helpful! May God bless you and keep you sharing your story, so that many more may be aware of this reality.

  14. I don’t have kids but your story really touched me. I am a medical professional and (though I rarely do) I often wish I could inquire about a person’s differences – not as an invasion but to be able to understand better and maybe educate someone else down the road. Thank you for encouraging people to approach you and your beautiful little boy, I wish you and your family all the best.

  15. Read your blog and saw the pictures, fell in love with Jameson! I love your last article <3

  16. Thank you so much for sharing your story with us. My daughter was born with unilateral craniosynostosis and had the surgery to correct it. It’s so difficult to watch your innocent, sweet child go through surgery. My heart goes out to you and your family. Jameson is such an adorable and strong boy!

  17. I had never heard of this disorder before. I happened upon this story on facebook and fell in love with your son’s smile. I showed the picture album to my 15 year old daughter and she fell in love with him too. He is beautiful <3

  18. Oh I know all about Hospital appointments as like Jameson, I have a rare syndrome called PHACES Syndrome. My Mum knows all to well about nasty comments as I had hemangioma all over as a little child and people stared and said some horrible things, what she found was the Adults were the worst for it! You are an awesome mother and all I can say is, at the end of the day, as long as you and your family keep encouraging Jameson and telling him you love him no matter what, and no matter what others say, he can do anything he puts his mind to and that he is awesome, he will grow up feeling good within himself. Keep up the good work and if you ever need to talk, I have put my email up top.
    PS, tell him if people stare, they are jealous of his beauty or the fact he’s loved, this is how I handle stares and pointing, as for cruel comments, if they state the obvious, teach him to respond in kine ie I am blind and someone one called me a blind bat (the obvious bit being my blindness) so I said “yup that’s right” and walked away.

  19. I just read the article you wrote about jerks making fun of your sweet child’s looks. How that must break your heart when these idiots make fun and jokes about a child that God created and entrusted to you. Please stay strong and continue to let the world know what losers they are. By remaining silent it allows them to continue with their bullying of others. You have made my day with your “mama bear” instincts to protect your child and others as well. May God bless your lovely family!

  20. My heart goes out for you and your son. I have two special needs children, one with CP and the other with soto syndrome, and I understand your struggles and love for your child. God bless him and you as a mom fighting for his best well being. Don’t listen to those insensitive jerks that used your son’s picture. They are not worth it.

  21. Seeing your beautiful child has made me smile. I had a difficult day at work today and need a smile. Your child is beautiful. I commend you for standing up to those bullies. I just wish people would grow up. Emanuel

  22. Psalm 27:1

    The Lord is my light and my salvation; whom shall I fear?

    The Lord is the strength of my life; of whom shall I be afraid?

  23. Your story touched me and you have a beautiful son. As parents we have to advocate and protect our children. Kuddos to you for taking on social media. It was a terrible thing how your son’s picture was used in a bullying way. May your story touch many lives on how we need to treat one another as human beings. Continue to fight for and love your son unconditionally. God Bless.

  24. Bless his little heart! I think he is adorable. It’s so sad that there are so many sick people in the world who think it’s ok to make fun of anyone, much less children. I’m reminded of the old song called Tell It All, Brother by Kenny Rogers. My heart goes out to you and that little prince.

  25. Your son is a beautiful little man! What a precious child of God he is. I know how terrible it must be for you to read the awful things that have been written. Try to ignore the morons who write such terrible things. Their day will come! Think of all the childless couples who want so much to have a child and are unable to do so. How lucky you are to have such a beautiful, loving little guy to hug and kiss and hold at night. I know he is the light of your life. Love him, cherish him, and protect him. God bless you and your beautiful family.

  26. God bless your family. Please remember, the ones nobody expect change the world!

  27. The truly diseased and disabled individuals whom lurk on this planet will never know, let alone appreciate, what Jameson wakes up to and enjoys every day. A slow and clear reading of the meaning of the word “meme” by all would go a long way to placing their ilk appropriately. AliceAnn, you have Support and Aloha from corners of the earth you may never reach, but your son with any enthusiasm and imagination, one day will. Stephen.

  28. Your son is a very handsome little boy. I’m sorry that you have to deal with such cruel human beings. God Bless you and your precious baby boy!

  29. Just read the story over at the Fox News website and thought I would pop over and show some support for Jameson.

    When I first saw Jameson’s picture the first thing that came to mind was here is a little man who is obviously loved and cherished by his family. I saw a happy child full of life, a child who has the best potential to go on to do great things in life because of a loving mom, and hopefully his journey will bring others together to help people understand that you don’t count anyone out of the game just because they are different.

    God Bless You, your family and especially Jameson..

  30. God bless you, and your family. I pray for Jameson to get the help and understanding he needs

  31. He is such a handsome little man! To me he is normal and loved and cared about! Prayers for him and his wonderful family for dealing with careless selfish idiots.

  32. Good for you calling out all the bullies out there.

    So many times we see mean and hateful people hide behind a computer screen. I hope everyone can see the bright and brave little man that is in your picture.

    Stay strong and give that little guy lots of hugs.

  33. I was born in 1960 With Anhydrosis Which basically means I have no Sweat Glands. A side affect is lack of hair & teeth so I’ve had a full set of dentures since I was 4 yrs old. Just like shoes you always buy yur kids a bit to big at first so they can grow into them, well It wasn’t hard for other kids to notice every 3 months when I received a new set of dentures. Although we didn’t have the Internet in the 1960’S Kids were very cruel right to my face. So I had to learn to fight back (literally) and that’s wrong. Got in lots of trouble, felt lot’s of pain inside & out. (Kinda wish my parents would have taken yur approach) but they didn’t. So it took a long time. But Jesus came into my life and showed me the error of my way’s and there’s. Now as you do, I share my birth defect with others & they find it quite interesting. But as a 6′ 245 LB Christian Biker for Christ all tattooed up, its a little easier too. Lol. Seriously though, you & your don are truly an inspiration to me & I hope to al who have a Disabilaty. We all need to move onward, learn to adapt, and live the way God made each one of us individually. And everyone needs to except the other for who they are. No one is better or worse than the other. Look at a bike
    Is the peddels more important than the handle bars? THE tires more valuable than the seat of course not. You must have each one in order to make up the whole bike right or its not a bike, it’s just a bunch of parts. Well when God created us He made each one of us special for His purpose that in the end we may enter the Kingdom of Heaven to be Glorified with Him. Do your son is just as special as Michael Jordan, Albert Einstein, The President of the United States, he’s just as special as YOU & ME. Because God is Awesome. Thank you for letting me share. Shady

  34. Indeed, thank you for calling out all the bullies.

    My brief best wishes, hopes and prayers to you, your son and family. Please call on us, if you ever need.

  35. I am so truly sorry to hear that no matter what or how he looks he is a beautiful child and is God’s blessing to you and this world. It’s just sad that there are immature people who like making fun of kids with a sickness. They have nothing better to do and obviously feel bad a out themselves. But God sees and hears everything God knows what we do before we don’t God don’t punish but see what they did

  36. A pure soul your son has there. He’ll be a fine man. There are a lot of people who are uneducated and ignorant like me about your son’s condition, thank you for the enlightenment. Sadly, there will always be insensitive pricks out there. Don’t worry though, Blessed is your son, for he has you.

  37. He is just as cute and sweet as he can be. If he were mine I would hug him all the time. Precious. His heart is so open and so pure. His smile is straight from God. He will delight you all the days of your life. You and he are both blessed and bless those including your wonderful family whose life he touches as he and you have just touched mine. I am thrilled to have learned of your family and your blog. We who see this perfection are focusing on all that is pure and good and know that nothing can touch the perfection of your precious boy.

  38. Jameson’s Mom:

    Its the end of the day and I happened to be checking news stories on the net before heading home when I read the story about your son and the misuse of his picture. Needless to say I’m sobbing like a baby and I’m a 50 year old man! Words cannot convey my feelings for you, your family and especially for Jameson. I pray God will pour out his blessing on you all. Thanks for so strongly reminding me of what’s really important in this life.

    Now if I could just get my eyes clear enough to drive home. By the way, my son is named Jamison too, but obviously spelled with an “i”.

    God bless,

  39. I never experienced these kinds of disorders ,until my daughter in law’s sister had a son with Williams Syndrome and on top of that heart trouble and Autism all at once.It is a long journey and I give all my support and love to you all that have something like it..AG has a beautiful 6 year sister.He is 4 now.Getting all the therapy he can get.It has helped him much.But,still a struggle.He has Williams Syndrome walk every year in Brooklyn.If u like to see it go to face book.Any one donating will be appreciated.

Leave a Reply

Your email address will not be published. Required fields are marked *