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PHACE Syndrome Community 2019 Awareness Week!
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Check back daily during the week of Sunday, March 17 through Sunday, March 24 for new PHACE facts each day!
There are currently approximately 1,000 known cases of PHACE Syndrome. However, there are likely many additional cases that go undiagnosed due to lack of awareness.
PHACE Syndrome is a clinical diagnosis, although it is thought to have a currently unidentified genetic component. Dr Dawn Siegel and Dr. Beth Drolet were awarded two research grants via the Gabrielle Miller, Kids First Research Program to submit samples for DNA sequencing. In 2018, over 100 PHACE syndrome families participated in the project. Additional samples are being collected and sequenced in 2019.
The diagnosis of PHACE is made based on clinical features and criteria determined by PHACE experts. Some people that do not fully meet the criteria, can be considered possible PHACE. Those who fully meet the criteria are called definite PHACE.
Girls are more likely to be diagnosed with PHACE, the reason for this is still unclear. Neither gender is effected more severely.
The cause of PHACE syndrome still remains unknown. The associated abnormalities are thought to be due to errors occurring very early in prenatal development.
PHACE is thought to be caused by spontaneous changes in the genes of some cells in the body early in development. PHACE syndrome is not inherited and no familial cases have been identified to date.
Children with PHACE syndrome are at risk for speech/language, gross motor, fine motor and other developmental delays.
It has been estimated that greater than 80% of children with PHACE syndrome have at least one abnormal artery in their neck or head, and many have several abnormal arteries in this region.
Children with PHACE can have developmental anomalies of the eye causing the eye to be formed differently. Changes to the eye caused by the hemangioma itself are not considered true PHACE-related eye anomalies, represented by the “E” in PHACE.
When babies have hemangiomas on the jaw line (sometimes doctors say these hemangiomas are in a “beard distribution”), they can be at risk for hemangiomas in the airway. Airway hemangiomas can be a life-threatening complication of PHACE syndrome and are not visible on the outside. Signs of airway hemangiomas include a croup-like cough or labored breathing.
Children with PHACE syndrome are at risk for migraine like headaches, seizures, developmental delays and very rarely, ischemic stroke
Some children with PHACE syndrome are born with abnormalities of the sternum. The sternum is the bone in the middle of the chest that joins the two sides of the rib cage. Sternal abnormalities are included as midline defects associated with PHACE syndrome.
The most common heart anomalies associated with PHACE are aberrant origin (misplacement) of the subclavian artery (21%) and aortic coarctation (narrowing) (19%). There are several other possible cardiac anomalies that can be associated with PHACE.
The hemangioma typically related to PHACE syndrome is referred to as a segmental hemangioma which tends to be greater than 5 cm in diameter and most often span one side of the face, scalp and neck. In newborns, segmental hemangiomas can be telangiectatic (broken blood vessel-like), or flat cherry-red patches. Segmental hemangiomas of the scalp, face, or neck are present in more than 95 percent of patients with PHACE syndrome.
Click webinar below to watch:
PHACE Registry & Research by Dr. Siegel
LATEST RESEARCH PAPERS
The PHACE Syndrome Community launched the very first PHACE Awareness Week in March 2015! Over 90 families participated. Today, our community has grown to over 500 members!
OUR MISSION is to raise awarenss about PHACE Syndrome, grow our community, share advancements in treatment, and support research.
We cannot do this without you!
Your generousity helps us reach physicians who don't know about PHACE, helps us reach every child born with PHACE so they can find the best care and treatment, and provides the funding to further research so that someday we can find the cause!