New advances and procedures concerning Pfeiffer Syndrome are constantly being developed. Be an advocate for your child!
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:
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Skull is prematurely fused and unable to grow normally (craniosynostosis)
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Bulging wide-set eyes due to shallow eye sockets (occular proptosis)
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Underdevelopment of the midface
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Broad, short thumbs and big toes
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Possible webbing of the hands and feet
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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.
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:
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Dental problems due to crowded teeth and often a high palate
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Poor vision
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Hearing loss in about 50% of children
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Will my child need surgery?
Depending on the severity of Pfeiffer Syndrome, your child may have some or all of the following surgeries:
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Frontal orbital advancement to allow the skull to grow properly and to increase the size of the eye sockets
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Jaw surgery
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Orthodontics work
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Surgical advancement of the mid-face
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With the proper treatment, most children with Pfeiffer Syndrome grow up to have completely normal intelligence and normal lives!
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 many of these teams. This is by no means a comprehensive list of all the craniofacial teams.
Please Contact Us 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 information below will help you get started. (Facebook has dozens of private groups specific to conditions. Try searching Facebook with a few different key words such as "craniofacial" or "burn" and find groups of parents and others with similar differences.)
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FACES: The National Craniofacial Association
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 (Apply Here). Resources include newsletters, information about craniofacial conditions, and networking opportunities. Contact Us for more information.
Office of Rare Diseases
The Genetic and Rare Diseases Information Center
Excellent web site for finding information on a variety of craniofacial disorders, particularly very rare ones. Information specialists are available to answer your questions. Telephone operation is Monday - Friday, 12 pm to 6 pm Eastern Time. Email or fax requests for information will be answered within 5-10 working days. U.S. Mail requests will be answered within 5-10 working days. NOTE: The center does not give medical advice, provide treatment, or diagnose illness.
Phone: (888) 205-2311
Website: rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome
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US National Library of Medicine
Your guide to understanding genetic conditions
Website: ghr.nlm.nih.gov/condition/pfeiffer-syndrome
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Apert International, Inc.
Don & Cathie Sears
This web site on Apert Syndrome will give you directions to the on-line discussion network that is an excellent support resource!!. The Annual Apert Conference is usually held each year in Myrtle Beach, South Carolina at the Crown Reef Resort. It is open to families who have been affected by Apert Syndrome or any other similar craniofacial difference. Registration is free, but families pay for travel costs, lodging, and food.
Phone: (803) 732-2372
Website: www.apert.org
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Pfeiffer Syndrome Facebook Support Group
This is a place for friends and family members to reach out to each other, and share their personal stories. To be a lending shoulder to those of us who have experienced a loved ones journey with Pfeiffer Syndrome. A place to read beautiful stories, and message others to help heal our wounds. And lastly, to educate parents who are expecting, and to make them aware of Pfeiffer's.
Website: www.facebook.com/PfeifferSyndrome
Headlines, Craniofacial Support
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.
Phone: (+44) (0330)-120-0410
Website: www.headlines.org.uk
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American Speech-Language-Hearing Association
The ASHA Action Center welcomes questions and requests for information from members and non-members.
Phone: 800-638-8255
Website: www.asha.org
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National Health Law Program
Provides extensive information on health care law affecting families with children who have special health care needs.
Phone: (202) 289-7661
Website: healthlaw.org
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Suggested Reading
Children with Facial Difference:
A Parent's Guide
Written by Hope Charkins, MSW. Excellent resource for parents to help them cope with medical, emotional, social, educational, legal, and financial challenges presented by facial differences of their children. Order from Amazon.com if you cannot find it in your local bookstore.
Babyface:
A Story of Heart and Bones,
By Jeanne McDermott, the mom of a son born with Apert Syndrome. This book highlights the first two years of Nate's life, and 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 can be found at Amazon.com.
