Pfeiffer Syndrome

What is Pfeiffer syndrome?

Pfeiffer syndrome is a genetic condition where the bones (sutures) in the skull close before the brain is fully grown (craniosynostosis). This causes deformities. Characteristics that lead to a Pfeiffer syndrome diagnosis include an underdeveloped or sunken face, bulging or wide eyes and an abnormally shaped head. Another characteristic is when the thumbs and the first (big) toe bends away from other fingers and toes.

What are the types of Pfeiffer syndrome?

There are three different types of Pfeiffer syndrome based on the severity of the condition, including:

• Type 1: Type 1 or classic Pfeiffer syndrome has mild symptoms, including facial deformities and well-defined thumbs and big toes. Children diagnosed with classic Pfeiffer syndrome usually have an average life expectancy and typical intelligence with treatment.
• Type 2: Type 2 Pfeiffer syndrome is more severe than type 1, often with more complex bone growth abnormalities in the hands and feet. Symptoms include decreased mobility of the elbow and/or knee joints, neurological problems and intellectual disabilities. The skull forms with a “tri-lobed” or “cloverleaf” shape that causes bulging at the sides and front. If this type doesn’t receive treatment, it could be life-threatening.
• Type 3: Type 3 Pfeiffer syndrome is similar to type 2, except the skull doesn’t bulge at the sides and the front. Instead, the base of the skull is short, teeth are present at birth (natal teeth), eyes protrude from their sockets (ocular proptosis) and there are internal organ abnormalities (visceral anomalies). The outlook for type 3 Pfeiffer syndrome is poor and often life-threatening if not treated.

Pfeiffer syndrome causes facial growth abnormalities due to skull bones closing before a baby’s brain finishes growing.

How common is Pfeiffer syndrome?

Pfeiffer syndrome is a rare genetic condition, affecting only 1 out of every 100,000 births.

What are the symptoms of Pfeiffer syndrome?

Pfeiffer syndrome occurs when joints (sutures) between bones in your baby’s skull close too soon during fetal development. After your baby’s skull closes, their brain is still growing. Pressure inside of the skull causes several physical characteristics that affect your baby’s appearance, including:

• A head that appears larger than normal, often with a high forehead.
• Bulging eyes or wide-set eyes.
• A beak-shaped nose.
• Crowded and crooked teeth due to a smaller jaw.

In addition, other physical characteristics include:

• Broad thumbs and a big toe that is out of line with other fingers and toes.
• Connected or webbed fingers and toes.

How does Pfeiffer syndrome affect my baby’s body?

Because your baby’s skull formed too soon during fetal development, they may have complications. These include:

• Hydrocephalus.
• Dental problems.
• Hearing loss.
• Limited mobility.
• Sleep apnea.
• Airway obstruction (difficulty breathing from the nose).
• Vision problems.

What causes Pfeiffer syndrome?

Pfeiffer syndrome occurs because of a genetic change (mutation) that makes a gene not work as it should. Most often, this change is in the FGFR2 (fibroblast growth factor receptor) gene, but can also be in the FGFR1 gene. In one case, healthcare providers found it in the FGFR3 gene.

The gene change causes miscommunication between fibroblast growth factors and receptors, which leads to joints (sutures) between bones closing before your baby’s brain grows to normal size during fetal development. The brain growth against the closed skull bones puts pressure on the bones, causing them to change shape and result in abnormal formations throughout the body.

This genetic mutation can pass down from one parent (autosomal dominant) to the child or it can be a new change in your baby’s DNA that occurs randomly. These random new (de novo) changes happen slightly more in parents assigned male at birth who are over 40 to 45 years old when the baby is born.

Who does Pfeiffer syndrome affect?

Pfeiffer syndrome is a rare condition that can affect anybody; people can’t cause the condition to happen nor can they prevent it.

How is Pfeiffer syndrome diagnosed?

Diagnosis of Pfeiffer syndrome can start before your baby is born during a prenatal ultrasound or MRI (magnetic resonance imaging) to identify skeletal abnormalities of your baby’s body during fetal development. Confirmation of the diagnosis occurs after your baby is born, when your healthcare provider will provide a physical examination of your baby along with a CT scan (computed tomography scan) or an MRI to look for misshapen bones, or bones that formed incorrectly. Genetic testing to find the gene change in the FGFR1 and/or FGFR2 genes also confirms a Pfeiffer syndrome diagnosis.

How is Pfeiffer syndrome treated?

Treatment for Pfeiffer syndrome addresses symptoms associated with the condition. Your child’s healthcare provider might recommend a series of surgeries to address bone growth abnormalities.

The most immediate treatment will be surgery to alleviate any pressure against the skull (craniosynostosis) or a buildup of fluid in the skull (hydrocephalus) due to your baby’s growing brain. A tube (shunt) inserted into the skull will drain fluid away from the brain. This surgery normally happens before your child turns 4 months old.

During their first year, your healthcare provider might recommend surgery to open your child’s skull to allow the brain to grow.

Reconstructive and cosmetic surgery follows to correct any irregularities, including reshaping the skull, opening up pathways to improve breathing or adjusting asymmetry in the face.

Under the supervision of your child’s healthcare provider, treatment for most children diagnosed with Pfeiffer syndrome will help them reach their full potential.

What treatments alleviate Pfeiffer syndrome's complications?

In addition to surgery, treatment is available to alleviate the complications of Pfeiffer syndrome including:

• Dental procedures and orthodontics for overcrowded teeth or a high palate.
• Eye procedures for poor vision.
• Hearing aid use for hearing loss.

Is there a cure for Pfeiffer syndrome?

There’s no known cure for Pfeiffer syndrome. Surgery will reduce your child’s symptoms to help them grow.

How can I reduce my risk of having a child with Pfeiffer syndrome?

If you’re planning on becoming pregnant, talk with your healthcare provider about genetic testing to see if you’re at risk of passing the FGFR1 or FGFR2 gene to your child. There’s a 50% chance that you could have a child with Pfeiffer syndrome if you have the condition or the gene associated with it. If biological parents are unaffected, the risk of having a second child with the condition is very rare but not impossible.

What can I expect if I have a child with Pfeiffer syndrome?

Pfeiffer syndrome is a lifelong condition without a cure. Your baby’s healthcare provider will offer a treatment plan that’ll likely involve multiple surgeries to alleviate symptoms.

If your child has type 1 Pfeiffer syndrome, their life expectancy will be normal. Children diagnosed with type 2 or type 3 Pfeiffer syndrome may face more complications and a shorter life expectancy if the condition doesn’t receive treatment.

Stay current with your child’s wellness checkups to address any health or developmental concerns that your child may face as they grow into an adult.

When should I see my child’s healthcare provider?

You should contact your child’s healthcare provider if:

• They have trouble breathing.
• The surgical site isn’t healing properly or becomes discolored, puffy or oozes pus (infected).
• They miss developmental milestones for their age.
• They don’t respond to simple, verbal commands or get frequent ear infections.

What questions should I ask my doctor?

• What type of treatment is best for my child?
• Are there any risks associated with surgery to treat the condition?
• Am I at risk of having another child with the same condition?

Did Prince have Pfeiffer syndrome?

As described in Mayte Garcia’s 2017 book, The Most Beautiful: My Life with Prince, Garcia, wife of the famous musician Prince, described how the couple had a child diagnosed with Pfeiffer syndrome type 2 in 1996. The child passed away during infancy due to severe complications from the condition. Garcia explains that she and Prince didn’t have the genetic condition and the child likely acquired it from a new genetic mutation.

A note from Cleveland Clinic

Pfeiffer syndrome is a rare genetic condition that may require several surgeries to alleviate symptoms. With treatment, your child will grow and learn just like other children their age, but they may experience complications. If you have a history of Pfeiffer syndrome in your biological family and you’re planning on becoming pregnant, talk with your healthcare provider about genetic counseling. This can help you identify any potential risks of having a child with the condition.