Pfeiffer Syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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 three types.
    • 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 and FGFR2.
  • Pfeiffer syndrome type II and type III are associated with mutations in FGFR2.
  • Older age in the father is a known risk factor for acquiring Pfeiffer syndrome in the offspring due to new mutations.

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)

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 affected)
  • Short fingers and toes (brachydactyly)
  • Webbing or fusion between the digits (syndactly)
  • Dental problems
  • Wide thumbs and big toes that bend away from the other digits
  • Cloverleaf-shaped head (in Type II Pfeiffer syndrome)

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.

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 syndrome.

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 the following:

  • Apert syndrome
  • Crouzon syndrome
  • Beare-Stevenson syndrome
  • FGFR2-related isolated coronal synostosis
  • Jackson-Weiss syndrome
  • Crouzon syndrome with acanthosis nigricans (AN)
  • 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.

REFERENCES:

Genetics Home Reference. "Pfeiffer syndrome." Pub Apr 16, 2016
<https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome#>

National Organization for Rare Disorders. "Pfeiffer syndrome." Pub 2015.
<http://rarediseases.org/rare-diseases/pfeiffer-syndrome/>

Last Editorial Review: 4/26/2016

Subscribe to MedicineNet's Children's Health & Parenting Newsletter

By clicking Submit, I agree to the MedicineNet's Terms & Conditions & Privacy Policy and understand that I may opt out of MedicineNet's subscriptions at any time.

Reviewed on 4/26/2016
References
REFERENCES:

Genetics Home Reference. "Pfeiffer syndrome." Pub Apr 16, 2016
<https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome#>

National Organization for Rare Disorders. "Pfeiffer syndrome." Pub 2015.
<http://rarediseases.org/rare-diseases/pfeiffer-syndrome/>

Health Solutions From Our Sponsors