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.


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

  • 16/06/2012 at 9:12 PM

    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.

  • 26/06/2012 at 9:03 AM

    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.

    • 29/09/2012 at 10:36 AM

      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.

  • 28/09/2012 at 3:55 AM

    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?

    • 29/09/2012 at 10:40 AM

      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.

      • 10/08/2013 at 3:27 AM

        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 .

      • 16/09/2013 at 7:37 AM

        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.


  • 27/04/2014 at 3:18 AM

    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

    • 13/07/2014 at 5:45 AM

      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.

  • 16/07/2014 at 7:12 PM

    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… May God Bless and keep those who keep fighting for answers to all rare illnesses.

  • 11/10/2014 at 7:29 AM

    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?

  • 11/10/2014 at 7:39 AM

    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?

  • 19/05/2015 at 3:01 AM

    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!

    • 19/09/2015 at 8:27 AM

      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.


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