Pfeiffer Syndrome

What Is Pfeiffer Syndrome?

Pfeiffer syndrome is a rare genetic condition affecting only about 1 in 100,000 newborns. It's a type of syndromic craniosynostosis where the bones of the skull and skull base grow together too soon. Children with Pfeiffer syndrome also may have abnormalities with their airway and their hands and feet.

Children with this disease tend to have distinctive facial features, such as:

  • A tall head which is wide and short front-to-back.
  • Large, prominent wide-set eyes.
  • Flat cheeks and upper jaw.
  • Underbite.

They can also have abnormalities of their hands and feet, and issues with their spine and joints.

Contact Us

Meet our team at UPMC Children's Hospital of Pittsburgh's Cleft-Craniofacial Center and learn about our treatment options, or contact UPMC Children's Hospital of Pittsburgh at 412-692-5325.

Overview

Types of Pfeiffer Syndrome

There are three types of Pfeiffer Syndrome:

  • Type 1 - Classic Pfeiffer syndrome
  • Type 2 – Kleeblattschladel syndrome
  • Type 3

Type 1 — Classic Pfeiffer syndrome

Type 1 is the mildest form of the disorder. However, Type 1 is still associated with craniosynostosis and facial growth problems.

Type 2 — Kleeblattschladel type

Children with type 2 have more severe craniosynostosis that can cause the skull to grow in a cloverleaf shape (kleeblattschladel).

The child may also have problems with:

  • Their joints, like the elbows and knees
  • Breathing
  • Brain development

Type 3

This type of Pfeiffer causes symptoms like those seen in type 2, but without a cloverleaf skull.

Children with type 3 may have:

  • Abnormal organs
  • A misshapen skull
  • Protruding eyes

Causes of Pfeiffer Syndrome

Pfeiffer syndrome is caused by changes a baby's genes.

Pfeiffer is closely related to several other syndromes also associated with mutations in FGFR (Fibroblast Grown Factor receptor) genes, including:

  • Apert syndrome
  • Crouzon syndrome
  • Jackson-Weiss syndrome
  • Beare-Stevenson syndrome
  • Muenke syndrome

All of these disorders involve craniosynostosis and many of them also involve abnormalities of facial bones and the bones of the hands or feet.

Pfeiffer syndrome risk factors

A child can inherit the mutated FGFR gene from a parent, or random changes can cause it. If a person has Pfeiffer, there's a 50 percent chance their child will have it too. Only one parent needs to carry the gene to pass it to their child.

Pfeiffer syndrome complications

Because Pfeiffer syndrome affects each child differently, complications may also vary.

If left untreated, children with Pfeiffer syndrome may have some of the following issues:

  • Increased pressure on the brain.
  • A buildup of spinal fluid in the brain called hydrocephalus.
  • Hearing impairment.
  • Vision loss.
  • Breathing problems.
  • Developmental delays.
  • Brain damage.

Why Choose UPMC Children's Hospital for Craniofacial Care?

UPMC Children's Hospital of Pittsburgh draws on 50 years of experience to treat over 3,000 children each year. UPMC Children's Hospital of Pittsburgh is consistently recognized as a leader in pediatric health care, most recently ranking on the 2020-21 U.S. News & World Report Honor Roll of America's Best Children's Hospitals. . Parents who trust their child's care to UPMC Children's Hospital can rest assured that their child will receive the high-quality services they need.

  • Our experts come from various disciplines and have the training required to care for children with complex craniofacial conditions.
  • We'll tailor a treatment plan based on your child's needs. We consider all aspects of your child's health including their brain, skull and eyes; airway and feeding; and self-image.
  • We work with other specialists to make sure your child gets the right care at the right time.
  • Our goal is to achieve optimal appearance, speech, hearing, and brain psychosocial development at the earliest possible age.

Meet our team at Cleft-Craniofacial Center and learn about our treatment options. Or contact UPMC Children's Hospital of Pittsburgh at 412-692-5325.

Symptoms & Diagnosis

Diagnosing Pfeiffer Syndrome

Doctors rarely diagnose Pfeiffer before birth.

If a parent has the gene for Pfeiffer syndrome, a prenatal ultrasound may reveal if the baby has any syndromic features. But in most cases, the doctor will only notice if the baby has Pfeiffer when they're born.

Babies born with this condition may need tests to confirm the diagnosis, including:

  • Imaging of the head, with an x-ray, a CT, or an MRI
  • Blood tests.

Pfeiffer Syndrome Symptoms and Diagnosis

The symptoms of this syndrome include the following facial features:

  • Eyes that are farther apart than usual.
  • Eyes that seem too shallow or that bulge.
  • Eyes that don't look in the same direction or don't close completely.
  • An unusually small nose.
  • A small upper jaw.
  • A cleft lip or cleft palate.

Features common in children with more serious forms of Pfeiffer include:

  • Short, webbed fingers and toes.
  • A thumb and a big toe that are wider than normal and bend away from the other fingers and toes.
  • An abnormally shaped skull (in severe cases, shaped like a cloverleaf).
  • A curved spine called scoliosis.

Treatment

Treatment for Pfeiffer Syndrome

Treatment for Pfeiffer syndrome is specific to your child's needs. Your child's surgeon will make a treatment plan focused on improving both function and appearance.

This syndrome can involve many systems of the body, and there are many possible treatments.

Our program draws from a team of experts with the training and skill needed to successfully treat children with Pfeiffer.

Our goal is to design a treatment plan tailored to the precise needs of your child soon after birth.

This means making sure:

  • They're breathing well.
  • They're getting enough nutrition.
  • Their brain has room to grow.

We strive to help each child have normal facial function and to improve their appearance as much as possible.

At UPMC Children's Hospital of Pittsburgh, we arrange services between several specialist groups, such as the:

Surgery to treat Pfeiffer syndrome

Based on your child's condition and needs, your team may suggest the following treatments:

  • Surgery for craniosynostosis (such as craniectomy, posterior vault distraction, or cranial vault remodeling procedures).
  • Treatments or surgery to help breathing problems (including supplemental oxygen, CPAP, tonsillectomy/adenoidectomy, tracheostomy).
  • Surgery to fix bones in the face that are too small or out of place (including mandibular distraction osteogenesis, frontofacial surgery, or orthognathic surgery.
  • Hydrocephalus treatment to treat extra fluid around the brain.
  • Cleft lip and/or palate surgery.
  • Surgery to correct problems with internal organs.

Pfeiffer syndrome prognosis

Children with Pfeiffer have a good prognosis. With early treatment and supportive care, most children won't have long-term complications.