Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Check Note
Ver. Summary Created by Modification Content Size Created at Operation
1 + 439 word(s) 439 2020-12-15 07:35:00
Pfeiffer Syndrome
Upload a video

Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.

genetic conditions
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to :
View Times: 311
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Table of Contents

    1. Introduction

    Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.

    In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).

    Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.

    2. Frequency

    Pfeiffer syndrome affects about 1 in 100,000 individuals.

    3. Causes

    Pfeiffer syndrome is most commonly caused by mutations in the FGFR2 gene. Mutations in the FGFR1 gene cause a small percentage of cases of type 1 Pfeiffer syndrome. Mutations in this gene have not been associated with type 2 or 3.

    The FGFR1 and FGFR2 genes provide instructions for making proteins known as fibroblast growth factor receptors 1 and 2, respectively. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters the function of the respective protein, causing prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet.

    4. Inheritance

    This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

    5. Other Names for This Condition

    • acrocephalosyndactyly, type V
    • ACS V
    • ACS5
    • craniofacial-skeletal-dermatologic dysplasia
    • Noack syndrome


    1. Chen L, Deng CX. Roles of FGF signaling in skeletal development and humangenetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review.
    2. Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S,Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454.
    3. Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrumof the FGFR2 gene in Pfeiffer syndrome. Hum Genet. 1999 May;104(5):425-31.
    4. Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG. Pfeiffer syndrome:analysis of a clinical series and development of a classification system. JCraniofac Surg. 2013 Jan;24(1):204-15. doi: 10.1097/SCS.0b013e31826704be.
    5. Harb E, Kran B. Pfeiffer syndrome: systemic and ocular implications.Optometry. 2005 Jul;76(7):352-62. Review.
    6. Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006 Jun 1;1:19.Review.
    7. Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, theirreceptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78. Review.
    Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to :
    View Times: 311
    Entry Collection: MedlinePlus
    Revision: 1 time (View History)
    Update Date: 24 Dec 2020
    Table of Contents


      Are you sure to Delete?

      Video Upload Options

      Do you have a full video?
      If you have any further questions, please contact Encyclopedia Editorial Office.
      Xu, R. Pfeiffer Syndrome. Encyclopedia. Available online: (accessed on 04 October 2023).
      Xu R. Pfeiffer Syndrome. Encyclopedia. Available at: Accessed October 04, 2023.
      Xu, Rita. "Pfeiffer Syndrome" Encyclopedia, (accessed October 04, 2023).
      Xu, R.(2020, December 24). Pfeiffer Syndrome. In Encyclopedia.
      Xu, Rita. "Pfeiffer Syndrome." Encyclopedia. Web. 24 December, 2020.