New advances and procedures concerning PHACE Syndrome are constantly being developed. Be an advocate for your child!
PHACE SYNDROME
What is PHACE Syndrome?
PHACE Syndrome is the uncommon association between large infantile hemangioma and birth defects of the brain, heart, eyes, skin, and/or arteries. (Infantile hemangioma refers to an overgrowth of incorrectly formed blood vessels.) PHACE was identified/defined in 1996, and there have been about 400 documented cases since then.
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Characteristics are described in the acronym as it stands for the body parts often affected:
P posterior fossa abnormalities and structural problems in other parts of the brain
H hemangioma(s) that are usually large on the head and neck
A arterial anomalies (either too narrow or wide) of the head (brain) and neck
C cardiac (heart) defects, usually of the aorta
E eye anomalies, often affecting the optic nerve
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Other characteristics may include defects of the sternum, hearing problems, thyroid problems, and growth hormone abnormalities.
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Why did this happen?
The cause of PHACE syndrome is unknown. It is thought that abnormalities occur very early in pregnancy. No genetic cause has been found, and research is ongoing.
Will this happen to children I have in the future?
No familial cases have been discovered to date.
What kinds of problems could my child have?
Effects vary widely from mild to severe cases. The growth phase of the hemangioma usually happens between six and eighteen months of age, and complications during this time can include strokes, seizures, migraine headaches, and developmental delays. Next comes a healing phase, in which the hemangioma recedes, but may leave permanent damage.
Other effects happen according to the hemangioma’s location. Structural changes in the brain can cause problems with speech, hearing, and swallowing; and endocrine conditions, such as thyroid dysfunction, growth hormone deficiency, hypoglycemia, and delay of puberty.
Long-term effects of PHACE syndrome are not well documented.
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Will my child need surgery?
Heart malformations may require surgical correction. Other conditions may be treated with medications and therapies, such as speech therapy. A team of physicians will need to work together to care for different conditions as they arise, and it is helpful if the same physicians can follow the child through the school-age period.
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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PHACE Syndrome Community
Website: www.phacesyndromecommunity.org
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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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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.
