Children with PHACE(S) syndrome have a segmental infantile hemangioma of the face and multiple related physical problems. Most children with a facial hemangioma that is greater than 5 cm in size are evaluated for this syndrome. PHACE is an acronym and each letter represents characteristics commonly seen in the syndrome:
P: Posterior Fossa Malformations
The posterior fossa is the area of the brain that includes the brainstem and cerebellum. There can be structural malformations, such as Dandy-Walker, or incomplete development of some areas of the brain, such as cerebellar atrophy.
Children with PHACE(S) syndrome have a large facial hemangioma.
A: Arterial Anomalies
Usually, arterial anomalies are seen in the head and neck and can include aneurysms or other malformations of arteries (such as kinking, looping or stenosis).
C: Cardiac Anomalies and Aortic Coarctation
Cardiac anomalies and aortic coarctation are seen in two-thirds of infants with PHACE, with coarctation of the aorta being the most common problem. This is a narrowing of the aorta, which is the major blood vessel that carries blood away from the heart. Sometimes infants will have an opening between the chambers of their heart, called an ASD (atrial-septal defect) or a VSD (ventricular-septal defect).
E: Eye Abnormalities
There may be problems with the optic nerve and vessels that supply the retina, as well as other deformities of structures within the eye.
(S): Sternal Clefting and Supraumbilical Raphe
Sternal clefting is when the sternum (breastbone) has not fused as one solid piece but is separated into two parts. Supraumbilical raphe is a line of tissue that extends from the belly button (umbilicus) to the sternum.
How Is PHACE(S) Syndrome Treated?
The Vascular Lesion Center at Lurie Children's includes multidisciplinary specialists that are available to meet your child and develop a specialized plan of care that meets their unique needs. Depending on the location and severity of the lesion, your child may need to be evaluated by many specialists including dermatologists, cardiologists, ophthalmologists, neurologists, radiologists, otolaryngologists, and plastic and general surgeons. Our psychologist and social worker will be able to help you and your child adjust to the changes and special needs that this condition requires.