Pfeiffer syndrome facts
- Pfeiffer syndrome is a genetic disorder
that results in abnormalities of the skull and facial bones as well as changes
in the fingers and toes.
- Pfeiffer syndrome is subdivided into
- People with Type I Pfeiffer syndrome
usually have a normal lifespan and typical intelligence.
- Those with Types II
and III Pfeiffer syndrome have more severe defects that can impair brain
development and function.
- There is no specific treatment for
Pfeiffer syndrome. Treatment is directed at improving the individual's symptoms.
- Pfeiffer syndrome is associated with
mutations (changes) in the FGFR genes.
- Pfeiffer syndrome affects about 1 out
of every 100,000 people.
- Pfeiffer syndrome can be inherited or
can occur due to a new mutation, or change, in the involved gene. In cases of
severe Pfeiffer syndrome, a new mutation is typically the cause.
What is Pfeiffer syndrome?
Pfeiffer syndrome is a rare genetic disorder characterized by premature
fusion of certain skull bones (craniosynostosis) and other birth defects in the
hands and feet. The abnormality of the skull bones causes changes in the shape
of the face and head. There are three subtypes of the syndrome, with Types II and II
being the most severe.
Pfeiffer syndrome has also been referred to as acrocephalosyndactyly type V,
ACSV, craniofacial-skeletal-dermatologic syndrome, and Noack syndrome.
What causes Pfeiffer syndrome?
Pfeiffer syndrome is inherited as an autosomal dominant genetic disorder,
meaning that only a single copy of an abnormal gene is necessary to cause the
condition. The abnormal gene can be inherited from either parent or be a result
of a new mutation (change in a gene) in the affected individual. Almost all
cases of Pfeiffer syndrome type II and type III originate from new mutations
because the parents are unaffected.
- Pfeiffer syndrome type I is associated with mutations in genes known as FGFR1
- Pfeiffer syndrome type II and type III are associated with mutations
- Older age in the father is a known risk factor for acquiring Pfeiffer
syndrome in the offspring due to new mutations.
What are the signs and symptoms of Pfeiffer syndrome?
Signs and symptoms of Pfeiffer syndrome include:
- Bulging eyes
- Wide-set eyes
- High forehead
- Beaked nose
- Underdevelopment of the upper jaw
- Prominent lower jaw
- Protrusion of the eyes
- Hearing loss (in over 50% of those
- Short fingers and toes (brachydactyly)
- Webbing or fusion between the digits
- Dental problems
- Wide thumbs and big toes that bend away
from the other digits
- Cloverleaf-shaped head (in Type II
People with Type I Pfeiffer syndrome typically have normal intelligence.
Types II and III of Pfeiffer syndrome are more severe. People with types II and
III of Pfeiffer syndrome usually have problems with brain development. This can
cause limitation of brain growth and developmental delays.
How common is Pfeiffer syndrome?
Pfeiffer syndrome affects around 1 out of every 100,000 people.
How is Pfeiffer syndrome diagnosed?
Pfeiffer syndrome is diagnosed by the presence of the characteristic birth
defects. If the diagnosis is uncertain, genetic testing can be done to identify
changes in the FGFR1 and/or FGFR2 genes.
Pregnancy: Multiple Births, Twins, Triplets, and More
Genetic Disease Types
There are a number of types of genetic inheritance, for example:
- Single gene inheritance (for example, disorders that include cystic
fibrosis, sickle cell anemia, and Marfan syndrome)
- Multifactor inheritance (for example, diseases like heart disease, high
blood pressure, arthritis, cancer, and diabetes)
Is there any treatment for Pfeiffer syndrome?
There is no treatment that can reverse Pfeiffer syndrome, but treatments are
available that address each individual's specific symptoms. Treatments may be
needed from a variety of specialists, including surgeons, pediatricians,
otolaryngologists (ENT specialists), neurologists, or others. Reconstructive
surgeries can help overcome some of the physical defects associated with the
What other disorders are related to Pfeiffer syndrome?
There is a spectrum of disorders associated with changes to the FGFR genes
that results in facial defects. These conditions include Pfeiffer syndrome and
- Apert syndrome
- Crouzon syndrome
- Beare-Stevenson syndrome
- FGFR2-related isolated coronal
- Jackson-Weiss syndrome
- Crouzon syndrome with acanthosis
- Muenke syndrome
What is the life expectancy of an individual with Pfeiffer syndrome?
Most people with Type I Pfeiffer syndrome have a normal life span. People
with Types II and III have severe disease and may develop complications that
shorten their life expectancy.
Medically Reviewed on 10/11/2018
Medically reviewed by Margaret Walsh, MD; Board Certificate: Pediatrics
Genetics Home Reference. "Pfeiffer syndrome." Pub Apr 16, 2016
National Organization for Rare Disorders. "Pfeiffer syndrome." Pub 2015.