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Pfeiffer syndrome

What is Pfeiffer syndrome?

Pfeiffer (FI-fer) syndrome is a condition a baby can have at birth that causes abnormalities in the bones of the skull and often in other parts of the body, too. It affects about 1 in 100,000 babies.

It is a type of disorder called syndromic craniosynostosis (sin-DRAHM-ick crain-ee-oh-sin-us-TOE-sis). A syndrome is a group of conditions that usually happen at the same time in the same ways. There are several different types of syndromic craniosynostosis, but what they all have in common is abnormal growth of the skull bones while the baby is still in the womb.

Normally, a baby’s head has flexible material between the five bones that form the skull. These allow the baby’s brain to expand as the baby grows. The bones close completely sometime during the teen years. When a baby has craniosynostosis, the bones of the baby’s head fuse together much too soon and the brain doesn’t have space to grow. It pushes against the bones and causes the head to take on an abnormal shape. Click here to learn more about craniosynostosis.

The symptoms of Pfeiffer syndrome can be mild to severe and can vary from child to child. There are three different types of Pfeiffer syndrome.

Type I is the most common and least severe.

Types II and III share some symptoms with Type I but are more severe forms of the condition. They are very similar, with the biggest difference being the shape of the baby’s head. In Type II, the skull is more misshapen, having a “cloverleaf” shape. In Type III, the area of the brain near the front above the eyes and nose is abnormally shallow.

Symptoms for all three types include:

  • Abnormally shaped skull (craniosynostosis)
  • Unusual facial features, such as bulging, widely spaced eyes and sunken/flattened cheekbones
  • Unusually wide thumbs and/or big toes that stick out
  • Short fingers that have grown together

Symptoms for Type II can include:

  • More severe form of craniosynostosis, that gives the head a “cloverleaf” shape
  • Low set ears
  • Fused elbow joint
  • Learning and developmental problems
  • Fluid surrounding the brain
  • Abnormalities in brain and nerve structures
  • Problems with the tissues of the heart, kidneys and GI tract
  • Breathing problems

Symptoms for Type III can include:

  • Some teeth at birth
  • Fused elbow joint
  • Learning and developmental problems
  • Seizures
  • Fluid surrounding the brain

Symptoms of the three types can also overlap. Other possible symptoms can include:

  • Sleep apnea
  • Hearing loss
  • Abnormally fused trachea (windpipe)
  • Cleft palate
  • Choanal atresia (ko-AY-nuhl uh-TREE-zhuh) (blocked nasal passage)
  • Tracheomalacia (TRAY-kee-oh-muh-LAY-shee-uh) (weak windpipe)
  • Imperforate anus (missing or blocked opening of the anus)
  • Issues with the spine
  • Dental problems
  • Unusually short fingers and toes

Babies with Type I typically have normal intelligence; those with Types II and III typically have some degree of learning and developmental delay.

Pfeiffer syndrome is one of several types of syndromic craniosynostosis that can share many of the same symptoms. It’s important for doctors to know exactly which syndrome a baby has to make sure they get the right care.

Something that sets Pfeiffer syndrome apart from other types of syndromic craniosynostosis is having unusually large thumbs and/or big toes that stick out. The baby may also have fingers, usually the pointer finger and middle finger, that have grown together.

What causes Pfeiffer syndrome?

An abnormality in a gene causes Pfeiffer syndrome. The abnormality can be in either of two genes, called FGFR1 and FGFR2. Both of these genes play a role in how bones grow.

Most of the time, the genetic problems of Pfieffer syndrome start while the baby is developing in the womb. Older age of the baby’s father can be a risk for this.

Sometimes, the genetic abnormality passes down to the baby from one of the parents. When this is the case, there is a 50/50 chance that any future children of that parent will also have Pfeiffer syndrome.

It’s important for parents of children with Pfeiffer syndrome to talk with a genetic counselor to understand how the syndrome impacts their child and any future children they may have.

How is Pfeiffer syndrome diagnosed?

Doctors can usually make a diagnosis of Pfeiffer syndrome with a physical examination that shows the abnormally shaped head, thumbs and/or big toes. Genetic testing for the abnormal gene confirms the diagnosis.

With the diagnosis, doctors will often order more tests, such as ultrasound and CT scans, to see exactly where and how much bone abnormality there is in the baby’s head and other areas of the body.

Treatment for Pfeiffer syndrome

Children with Pfeiffer syndrome typically need several surgeries over the course of childhood. The first surgeries typically are done to treat craniosynostosis and/or excess fluid that may be surrounding the baby’s brain. Surgery on the baby’s skull is usually done when the baby is under a year old. This gives the baby’s brain room to grow and develop normally. Learn more about surgery for craniosynostosis here.

The symptoms of Pfeiffer syndrome can be different for every child. Treatment is tailored to a child’s specific symptoms, so the kinds of surgery a baby may need can vary.

Some other surgeries a baby may need include:

  • Reshaping the bones of the eyes, nose and mouth
  • Correction of problems in the trachea (windpipe)
  • Placement of a tube (shunt) in the baby’s head to drain excess fluid
  • Treatment for hearing loss
  • Correction of bones in fingers, toes and, sometimes, other areas in the body such as the spine and elbows
  • Realigning the jaws and teeth

Babies who have Pfeiffer syndrome should get help at centers where the care team includes all the pediatric specialists who are trained to treat the various symptoms. This can include:

  • Plastic and craniofacial surgeons
  • Neurosurgeons
  • Otolaryngologists (ear, nose and throat doctors)
  • Pediatricians
  • Neurologists
  • Ophthalmologists (eye doctors)
  • Audiologists (hearing specialists)
  • Physical, occupational and speech therapists
  • Genetic counselors

Working together, this team will monitor the baby closely throughout childhood to treat any symptoms that may develop. Usually, any surgeries a baby may need are all finished by the time the child is in late adolescence.

Long-term outlook for Pfeiffer syndrome

More than half of babies who have Pfeiffer syndrome have Type I. Children with Type I usually have normal intelligence and, with the right treatment, can lead normal lives.

Babies with Types II and III, which are more severe forms of the condition, may experience more complications. They can have learning and developmental problems, as well as difficulty breathing and eating.

No matter what type of Pfeiffer syndrome a baby has, those who begin treatment early with a care team experienced in handling the condition have the best outcomes.

Get help at Children’s of Mississippi

The craniofacial team at Children’s of Mississippi is experienced in caring for children with all types of Pfeiffer syndrome. We have all the pediatric specialists needed to manage the range of symptoms that can be a part of this diagnosis, including genetic counselors. We support parents throughout their child’s journey, doing everything possible to help children reach their full potential.

You can request a consultation with our pediatric craniofacial surgeons. They will be happy to answer your questions and help you understand your options. Schedule an appointment online.

Last reviewed: April 14, 2026