PHACE syndrome

PHACE syndrome

(fās)
A rare disorder in which a child is born with facial hemangiomas and malformations of the brain, eyes, heart, and great vessels. The acronym PHACE denotes that abnormalities include posterior brain fossa maldevelopment, hemangiomas of the face, arterial malformations, cardiac disease, and structural problems of the eye.
References in periodicals archive ?
PHACE syndrome (posterior fossa brain malformations) had yet to be described (that was done in 1996 by Ilona Frieden, MD, and her colleagues).
PHACE syndrome infants are born to slightly older mothers and at a slightly older gestational age than other hemangiomas.
5 Port-wine stain in case of Sturge-Weber syndrome may mimic facial hemangioma but absence of glaucoma on eye examination and MRI findings typical of PHACE syndrome in our patient excluded Sturge-Weber syndrome.
PHACES SYNDROME is PHACE syndrome plus: Sternal cleft, supraumbilical raphe, or both.
DISCUSSION: Although relatively uncommon, more than 400cases of PHACE syndrome have been reported in the medical literature.
Large facial IH can be a component of PHACE syndrome.
Syndromes associated with DWM include PHACE syndrome (posterior fossa abnormalities, haemagiomas, arterial anomalies, coarctation of aorta, cardiac defects and eye abnormalities) and Ellis-Van Creveld Syndrome.
The newly reported cases with PHACE syndrome (Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities) suggests further expansion of the spectrum of PHACE to include other forms of disordered cerebral development and endocrine dysfunction.
Treatment should also be considered in patients with periocular or liver hemangiomas, hemangiomas of the airway, spinal dysraphism or genitourinary complications, or in PHACE syndrome, she said.
BALTIMORE -- Preliminary data from a small study suggest that children with PHACE syndrome are at high risk for both motor and speech delay, and should be closely evaluated so that early interventions can be started to improve outcomes.
Consider PHACE syndrome in any infant who presents with a large, plaque-like facial hemangioma, said Dr.