Pfeiffer Syndrome – Pictures, Symptoms & Treatment

What is Pfeiffer Syndrome?

Pfeiffer syndrome is a health problem caused by a fusion of bones found in the skull, causing a malformation of the skull. The characteristics of Pfeiffer Syndrome include the following:


  1. Prematurely fused skull and inability to develop in a normal way, known as craniosynostosis.
  2. Eyes are wide-set and bulging because of shallow eye sockets, known as occular proptosis.
  3. Midface is underdeveloped.
  4. Thumbs and big toes are short and broad.
  5. Webbed hands and feet.

Symptoms & Pathophysiology

  1. People suffering from Pfeiffer syndrome have skulls that are tower-shaped and have high foreheads.
  2. They also have short and broad thumbs and big toes.
  3. Underdevelopment of the midface results to down slanting, low set and wide set eyes; a tiny upper jaw bone; and a low placed nasal bridge.
  4. The larynx (voice box) and the pharynx (connects the larynx and the lungs) can also be deformed.
  5. More symptoms involve a chin that is projecting, different visual axes, and deformities of the passage way between the nose and the pharynx and loss of hearing.
  6. Fingers and toes can be short or developed partially.
  7. The palate might be particularly high and the teeth might appear crowded.
  8. The elbow joint might be fixed in place.

The human skull is made up of various bones that unite once the brain has completed growing. Once the bones have prematurely fused though, called craniosynostosis, the skull keeps on abnormally growing. The areas where the bones of the skull unite are called sutures.

The coronal suture is the one that prematurely fuses in Pfeiffer syndrome. This suture divides the frontal bone from the two parietal bones, which are the middle bones. Once the coronal suture has prematurely fused, the upward development of the skull is intensified and the development in the front and back is reduced. At times, the sagittal suture will also be prematurely closed in people suffering from Pfeiffer syndrome. This suture divides the right and left lateral areas of the middle part of the skull. When both coronal and sagittal sutures prematurely fuse, the skull grows into the shape of a clover leaf in appearance.

Severe complications of this syndrome involve respiratory complications and hydrocephalus. Hydrocephalus is defined as an over production of fluid inside the brain, resulting in brain malfunction if no treatment is performed. Respiratory problems may be brought about by deformities in the trachea or the underdevelopment of the midface. Several people may have a tracheostomy or an incision in the trachea. Death can be brought about by serious brain deformities, respiratory difficulties, prematurity, and complications brought about by surgery. Even with no hydrocephalus, there will still be mental retardation and delays in development. Low set eyes may be so serious that the child is incapable of closing his or her eyelids.


Pictures 

Pfeiffer Syndrome images


Pfeiffer Syndrome images

Pfeiffer Syndrome pictures

Treatment of Pfeiffer Syndrome

Infants suffering from Pfeiffer syndrome need to been treated by a team of experts in the field. This team usually involves

  1. Plastic surgeons,
  2. Orthopedists,
  3. Neurosurgeons,
  4. ENT doctors,
  5. Dentists and other experts.

The families involved may consult with experts at the same time from when they enter the craniofacial clinic inside the hospital. Several body deformities must be attended to right away. Financial, mental and developmental concerns are secondary issues that also need attention. Sadly, the focus of the treatment is symptomatic and not really on the underlying etiology. Even if the craniosynostosis is found in the prenatal phase,  the treatment is still only symptomatic.

Numerous surgeries are normally done to gradually fix the craniosynostosis and to regularize the facial form. A surgical team is usually included. They involve a neurosurgeon and a plastic surgeon specialized in this treatment. The time and the sequence of surgeries may differ. An infant with the type of syndromic craniosynostosis usually needs an earlier surgery compared with infants with nonsyndromic type of craniosynostosis. The initial surgery is typically done within the first years of life or first few months of life.

More surgeries may need to be performed to fix other deformities. Abnormalities in the legs cannot normally be corrected. If the deformities in the leg do not result in disability, surgery is generally not needed. The correction of the elbow joints may only be partially done or at least modified for better performance.


The issues that need immediate health care are the following:

  1. Hydrocephalus
  2. Obstruction of the airway
  3. Loss of hearing
  4. Partial closure of the eyelid
  5. Spine deformities

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23 thoughts on “Pfeiffer Syndrome – Pictures, Symptoms & Treatment

  • 16/06/2012 at 9:12 PM
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    Hi! I’m two weeks pregnant now and I came across your blog. I suddenly got worried about my pregnancy because of fear of having my child develop this syndrome. Anyway, I want to know what are the causes of Pfeiffer syndrome so I may be able to avoid them.

    Reply
  • 26/06/2012 at 9:03 AM
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    Hi. I am a retired Special Education teacher. In my preparation for my teaching credential, we were required to take two semester-long, very involved courses in medical implications of childhood and newborn illnesses and syndromes. What I know as a non-medical professional is this: you or your partner/husband must carry the gene for this particular syndrome. And then, only a 25% chance that a child born would have the syndrome, and then, there are varying degrees of seriousness of the illness.
    In summary, I think that you can worry your self crazy about “what if?” Please don’t do that. Read up on genetics if you want to know more about how syndromes are contracted. But relax, and have a happy pregnancy. You will need all your strength for those “teenage years” . God Bless
    Alice, mother of six, grandmother of 11.

    Reply
    • 29/09/2012 at 10:36 AM
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      while i know your intentions are good, if you’re not a medical professional, please check your facts before you state some things. i am a 27-year-old woman with Pfeiffer Syndrome (Type I) who is petrified of having children and passing this on to my kids. I am extremely fortunate in that i was able to go to the best doctors and get surgery, and by looking at me, you’d never know i had anything wrong with me. however, knowing what i went through emotionally for the last 20 years, feeling horrified whenever i looked in the mirror, hating myself for what i looked like, and wanting to commit suicide because of my genetic mutation, i can tell you it feels like crap, worse than anything else i went through (including my parents’ divorce). my teenage years were great- i never drank, never had detention, never even got in trouble at school. my parents were far more worried about me during my surgeries (first one at 6 months, then again at 15 years) then they ever were during my teenage years. having pfeiffer syndrome has put a lot in perspective for me. if i ever get married, i’d have to tell my husband we may never be able to conceive normal kids the normal way. i may have to undergo genetic testing. i may never be guaranteed to carry a baby that doesn’t have this. and knowing what i’ve gone through in life, i wouldn’t want to give it to my baby. so if someone wants to know if their child has a genetic mutation that will do to them what this has done to me, then let them. if i found out my baby has pfeiffer syndrome, i may not want to carry it. i don’t want them living with what i have.
      but it’s my right to do that.

      Reply
  • 28/09/2012 at 3:55 AM
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    please i want to no,can an infant be diagnose within the 20 weeks of pregnancy a pffefer syndron,with all the likely issues that follows this pffefer?

    Reply
    • 29/09/2012 at 10:40 AM
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      it might be possible with an amniocentesis. that’s when they stick a needle in the uterus and take out fluid from the placenta and they can do testing on it. i don’t know if they can check for pfeiffer syndrome, but in 2012 i’d be surprised if they couldn’t. ask your pediatrician or obgyn if they can recommend a geneticist in your area. the geneticist would be able to tell you what your child might have and the symptoms/side effects and what you’re looking at.
      hope this helps.

      Reply
      • 10/08/2013 at 3:27 AM
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        hi there ive got a 7 week old baby girl and waited 3weeks b4 i was due to have her the amniosentisus does not pick the pfeiffer syndrome up as my little girls got pfeiffers 2 bless her shes still in hospital now .

        Reply
      • 16/09/2013 at 7:37 AM
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        Kelly,
        Twenty years ago my second son was born with this syndrome and he has had many of the same feelings about his life that you have shared. I would appreciate it if you would email me so I could visit with you this disease.

        Sincerely,
        Susan

        Reply
  • 27/04/2014 at 3:18 AM
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    My daughter is 3 months old and has Pfeiffer Syndrome Type 2…. It was the hardest thing ever learning your child has a rare genetics disorder but nevertheless we’re slowly learning how to deal with everything…. She’s undergone 7 surgical procedures already and we were told to anticipate a few more…. I love her, her dad loves her and our entire family and friends love her and despite everything, we are blesse to have this miracle in our lives

    Reply
    • 13/07/2014 at 5:45 AM
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      My daughter is 2 years and has stage one.pp stare atger and ppl ask me what Iis wrong or they ask ne uf she is slow. Its hard. Now shes has cranio surgery the 25th nxt month.

      Reply
  • 16/07/2014 at 7:12 PM
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    I’m almost 42 and was diagnosed with Noacks/Pfeiffer syndrome. It has been hard having little to no doctors help all of these years while dealing with rare illness. If anyone needs to talk about this here is my e-mail address…christyrotert@aol.com. May God Bless and keep those who keep fighting for answers to all rare illnesses.

    Reply
  • 11/10/2014 at 7:29 AM
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    Hey, my boyfriend is 20yo, and he was diagnosed have pfeiffer. Is that possible? And what would happens to him? Is it possible to lose his normal face and body? Or its different pfriffer?

    Reply
  • 11/10/2014 at 7:39 AM
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    Hey, my boyfriend is 20yo, and he was diagnosed has pfeiffer. Is that possible? And what would happens to him? Is it possible to lose his normal face and body? Or its different pfriffer?

    Reply
  • 19/05/2015 at 3:01 AM
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    For all of you who may feel that it’s up to you to decide the fate of a child’s future, because he or she has been diagnosed with a difficult
    diseases its my own personal belief that none of us have that right!
    I myself have a genetic disease and though it’s been very difficult at times I still have a place on this Earth! It’s up to you the parents of these special 2gifts to see to it your child grows up to be the best they can and instill the proper values. Its not what you look like it’s who YOU ARE &what you DO with the life God has imparted in you!
    1♡○•☆G

    Reply
    • 19/09/2015 at 8:27 AM
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      I believe you are blessed with a great opinion regarding your personal situation, however, you must also understand that everyone may not have the strength of views that you seem to have. As it is a very personal decision and a very difficult one for most, I believe one needs to respect every person’s right to make their own decision and not judge.

      Reply
    • 23/04/2016 at 6:00 AM
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      what really galls me arefolks trying to force their views, valuess, religious beliefs on others. divorce is very high is very high among couples with disabled children, due to financial and emotional strain. What about the other kids in the famiy who get neglected because of the amount of time/attention that a severely disabled child requires.This should be left strictly up to the parents w/o gov or religious nonsense intervention. One state just passed a law that would prevent termination in theses types of cases. sure to be overturned by scotus

      Reply
      • 25/04/2016 at 3:11 AM
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        Agree.
        What nobody seems to talk about is the baby that lives….for a week like Prince’s son did. Or a month like my friend’s son did. He suffered, cried in a little mewling moan constantly. Her other kids were absolutely tormented when they saw him and their little girl, 6, kept asking me why everyone kept saying he was so beautiful when obviously there was things wrong with him and why was nobody noticing?
        Love is not about beauty. Love means comfort. It means peace, sacrifice, being cared for. You love your other kids. You might love this poor growing baby that you’ve found has this horrible syndrome. You might love it enough to not want it to suffer. There are varying degrees. Nobody would kill a baby because it wasn’t pretty but if you have a baby with the most devastating forms of this and you know the baby will suffer and you cannot manage then you have every right to decide that you won’t bring that child to full term – if you even can. No one can tell you that you should want to have a baby with a massive skull deformity that will surely die. We might all want perfect babies and they have every right to live but having a baby that will not have any type of life is not anyone else’s choice.
        I’m talking about the worst of the spectrum. It’s too bad all these “every baby is a gift” people don’t seem to want to adopt all those kids. They just want *someone* to raise them. Without tax money either.

        Reply
    • 24/04/2016 at 9:53 AM
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      Amen…God makes his children in many different forms. Please be blessed all of you.

      Reply
  • 28/01/2016 at 8:50 AM
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    I am actually writing a report about this disease, and I am learning more about it every day. This has been a great website to learn about it

    Reply
  • 22/04/2016 at 2:37 AM
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    Pfeiffer and Cruzon Syndrome usually is cast forward in genetics of one parent or the other. Both syndromes are very hard on the child, family and everyone involved. My granddaughter has Cruzon which is related to Pfeiffer. She mutated her own gene. It was not genetic. I have seen Pfeiffer babies and children in the Seattle Children’s Hospital. You can look at all the imagines but nothing prepares one for the actuality of holding one of these little babies in your arms and knowing what lies ahead for their healing, if there is healing to be had. Pfeiffer is the worst as far as all over body deformities. My daughter-in-law had her allowable imagines and nothing was picked up that the baby was different. When she was born, no one at the local hospital knew why she look a little different. They thought it was Downs Sy. These sweet little boys and girls go through surgery after surgery, 10 so far for my granddaughter and 3 more to come. She is now 20 and functions at normal intelligence and is in college. I don’t know where I am really going with this but..she has been judged much in her life. Thank goodness she holds on to a strong faith that carries her through many rough roads. Along with mom, dad , brothers and me (grandma) we have tried to make her world as normal as can be and we are so proud of her.
    I guess what I am saying is that, no one can make the choice except mother and father as to whether the child should be terminated. It is a rotten choice either way.

    Reply
  • 24/04/2016 at 1:49 AM
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    U r all very brave who hve children like this. God Bless u and yr children.
    Keep being the strength that they will need thru life.

    Reply
  • 12/07/2016 at 5:44 PM
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    hi, i turkey / I am writing from Istanbul with my story 39 years on my daughter’s birthday and was then my daughter cry out başladı.doğu respiratory distress reason we have it bought the neonatal intensive care unit was stay for 6 months in an incubator was intubated, his heart stopped exactly 45 minutes the doctor Intervention couple back to life , Inc. döndü.b a mucize.soluk emergency tracheostomy tube was opened for 7 years development, we put a lot Fight me, I learned that my daughter but my daughter Pfeiffer syndrome diagnosis 05/13/2016 We flew to heaven in history.
    I miss it very much I love my daughter

    Reply
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