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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:
They can also have abnormalities of their hands and feet, and issues with their spine and joints.
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 412-692-8650.
There are three types of Pfeiffer Syndrome:
Type 1 is the mildest form of the disorder. However, Type 1 is still associated with craniosynostosis and facial growth problems.
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:
This type of Pfeiffer causes symptoms like those seen in type 2, but without a cloverleaf skull.
Children with type 3 may have:
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:
All of these disorders involve craniosynostosis and many of them also involve abnormalities of facial bones and the bones of the hands or feet.
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.
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:
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.
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.
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:
Pfeiffer Syndrome Symptoms and Diagnosis
The symptoms of this syndrome include the following facial features:
Features common in children with more serious forms of Pfeiffer include:
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:
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:
Based on your child's condition and needs, your team may suggest the following treatments:
Children with Pfeiffer have a good prognosis. With early treatment and supportive care, most children won't have long-term complications.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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