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.

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)

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.
Medically Reviewed by a Doctor on 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.

Health Solutions From Our Sponsors