PHACE Syndrome: 9 Things You Need to Know About the Rare Disorder by Donna John

If you’ve never heard of PHACE syndrome, you’re not alone. Here are nine things to help you better understand the disorder from the Children’s Hospital of Wisconsin:

• PHACE syndrome is a disorder characterized by large infantile hemangiomas (a benign tumor of blood vessels, often forming a red birthmark) of the face, scalp and neck associated with developmental defects of the brain, blood vessels, eyes, heart and chest wall.
• PHACE syndrome is a relatively newly discovered entity and was first described in 1996.
• PHACE is an acronym that refers to Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/Coarctation of the aorta, and Eye anomalies.
• Every child diagnosed with PHACE syndrome has a different combination of abnormalities associated with the syndrome. Not every affected child has all of the same symptoms.
• Although relatively uncommon, more than 400 cases of PHACE syndrome have been reported in the medical literature. This number, however, is most likely an underrepresentation of the true number of PHACE syndrome cases due to a variety of reasons.
• The identification of PHACE syndrome is made by a clinical diagnosis. This means there is no one sign or symptom that will indicate a diagnosis of PHACE syndrome.
• It is recommended that infants at risk for PHACE syndrome with large (greater than 24 cm squared) hemangiomas of the face or scalp undergo several tests to evaluate their brain, neck, chest, heart and eyes.
• Although there is research in progress to determine the cause of PHACE syndrome, still very little is known about the development and natural history of this syndrome.
• If a child has been diagnosed with PHACE syndrome, the Children's Hospital of Wisconsin recommends that the child be evaluated by a multidisciplinary team (doctors from many different specialties) of physicians to ensure that all aspects of the child's health are evaluated and treated.

Learn more about PHACE syndrome here.

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