The National Craniofacial Association
P. O. Box 11082	* Chattanooga, TN 37401
800-	332-2373

Pfeiffer Syndrome

What is Pfeiffer Syndrome?

Pfeiffer Syndrome (first reported in 1964) is a condition resulting from premature fusion of the sutures of the skull and deformity of the skull. Characteristics include:

• skull is prematurely fused and unable to grow normally (craniosynostosis)
• bulging wide-set eyes due to shallow eye sockets (occular proptosis)
• underdevelopment of the midface
• broad, short thumbs and big toes
• possible webbing of the hands and feet

Why did this happen?

There is no link between anything the mother did or did not do while she was pregnant and the occurrence of Pfeiffer Syndrome. Doctors believe it is caused by changes in the gene (FGFR 1 & FGFR 2) mapped to chromosome's 8 and 10. The cause of the change is not currently known.

Will this happen to children I have in the future?

If you have Pfeiffer Syndrome, there is a 50% chance that other children you have will be born with it. If both parents are unaffected, the risk is very small that it will occur in other children. If you or a family member has Pfeiffer Syndrome, we encourage you to consider participating in a current study through The Johns Hopkins Medical Institutions. Details are given below.

What kinds of problems could my child have?

In addition to the physical characteristics common to Pfeiffer Syndrome, your child may have the following problems:

• dental problems due to crowded teeth and often a high palate
• poor vision
• hearing loss in about 50% of children

Will my child need surgery?

Depending on the severity of Pfeiffer Syndrome, your child may have some or all of the following surgeries:

• frontal orbital advancement to allow the skull to grow properly and to increase the size of the eye sockets
• jaw surgery
• orthodontics work
• surgical advancement of the mid-face

With the proper treatment, most children with Pfeiffer Syndrome grow up to have completely normal intelligence and normal lives!

New advances in procedures to correct Pfeiffer Syndrome are constantly being developed. Be an advocate for your child!

How do I get help for my child?
Your child should be treated by a qualified craniofacial medical team at a craniofacial center. Currently, FACES has information on thirty-two craniofacial teams located in 20 states, the District of Columbia, and Canada. This is by no means a comprehensive list of all the craniofacial teams. Please contact FACES for details.

Am I alone?
No! There are many families and organizations who will be glad to talk with you and help you with information and support. Don't forget books, videos, and websites. The listing below will get you started.

FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
(800) 332-2373
email: faces@faces-cranio.org
We provide financial support for non-medical expenses to patients traveling to a craniofacial center for treatment. Eligibility is based on financial and medical need. Resources include newsletters, information about craniofacial conditions, and networking opportunities.

Apert International, Inc.
Cathie Sears
1900 Shadowood Drive
Columbia, SC  29212
(803) 732-2372
http://www.apert.org
This web site on Apert Syndrome will give you directions to the on-line discussion network that will also help you with Pfeiffer Syndrome concerns, as the two syndromes have many similarities. Read stories and meet other families - a great support network.

Craniofacial Support Group
44 Helmsdale Road
Leamington Spa, CV32 7DW
United Kingdom
email: SJMoody@headlines.org.uk
website: http://www.headlines.org.uk
This excellent international organization has a booklet on Pfeiffer Syndrome, as well as a support network of families dealing with this syndrome. They also have a number of journal articles relating to Pfeiffer Syndrome.

MUMS
National Parent to Parent Organization
c/o Julie Gordon
150 Custer Court
Green Bay, WI 54301-1243
Toll free  (877) 336-5333
http://www.netnet.net/mums/
This organization helps you get in touch with parents in your area whose children also have Pfeiffer Syndrome.

Johns Hopkins Center for Craniofacial Development & Disorders
Web site: http://www.hopkinsmedicine.org/craniofacial
At the web site, click on the "Family" button, "Patient Care" button, and go to the section on Pfeiffer syndrome.

Babyface: A Story of Heart and Bones, written by Jeanne McDermott, the mom of a son born with Apert Syndrome. This wonderful, passionate book highlights the first two years of Nate's life, and this gifted writer expresses the thoughts and feelings that are a part of the journey of having a child who is born with a rare disorder. This is a book you will want to share with your friends and family members. The book is published by Woodbine House and is also available at most major bookstores.

The Craniofacial Center
Dr. Jeffery A. Fearon, MD, FACS, FAAP, Director
7777 Forest Lane, Suite C-700
Dallas, TX  75230
(972) 566-6464
Email:  cranio700@aol.com
Visit Dr. Jeffrey Fearon's informative website that is very lay friendly and easy to understand.

Children with Facial Difference: A Parent's Guide.
Written by Hope Charkins, MSW.
Order from Amazon.com if you cannot find it in your local bookstore.
Excellent resource for parents to help them cope with medical, emotional, social, educational, legal, and financial challenges presented by facial differences of their children. Woodbine House is no longer publishing this wonderful book; however, you can possibly find it at your major bookstore chain or through Amazon on the internet.

National Health Law Program
1101 14th Street, NW, Suite 405
Washington, DC 20005
(202) 289-7661
Website: http://www.healthlaw.org
Provides extensive information on health care law affecting families with children who have special health care needs.

Invitation for Participation in a Research Study

The following is a letter from McKusick-Nathans Institute of Genetic Medicine

The Johns Hopkins Hospital
600 N. Wolfe Street
Baltimore, MD 21287-3914
Email: IGMStudy2@yahoo.com

We are interested in finding out how certain genetic changes, especially those causing the craniofacial disorders Crouzon and Pfeiffer syndromes occur. We are looking for other genetic changes near the ones causing Crouzon and Pfeiffer syndromes to see if there is an association with certain changes.

We would like to invite families to participate in our study.  We are recruiting families in which the parents do not have Crouzon or Pfeiffer syndromes, but a child does.   Each family member will need to sign a consent form and buccal cell and/or blood samples will be collected.  Blood sample collection can be arranged at the Johns Hopkins Hospital or a local/family physician’s office.  If you choose to have the blood samples collected by a facility other than the Johns Hopkins Hospital, a collection kit and the appropriate packaging will be sent to you.  Buccal cell samples can be collected at home and a kit will be provided through the mail.  This is a painless and simple procedure where a special swab like a Q-tip is rubbed on the inside of the cheek to collect loose cells.  Packaging and postage will be provided to return the samples and consent form to the laboratory.  The DNA will then be isolated and analyzed in the laboratory.

The families will not benefit directly and will not be able to find out their results.  We hope that this research will help us better understand how certain genetic changes occur.  All samples will be coded by identification number and will remain anonymous.

All costs for participation are paid by our institution.

If you are interested in participating or if you have any questions regarding this study, please email IGMStudy2@yahoo.com or contact us by telephone at 410-955-0327 for additional information or to make arrangements.  Thank you for taking time to consider participation in this study.

Last modified on: Thursday, March 22, 2007 04:41 PM