The PHACE Syndrome is a neurocutaneous syndrome with a number of
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Letter
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Clinical Finding
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P
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posterior fossa malformations (cerebellar atrophy, other)
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H
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hemangiomas (primarily facial; also subglottic, intra-cranial, other)
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A
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arterial anomalies (including intracranial arteries)
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C
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coarctation of the aorta and cardiac defect
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E
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eye abnormalities (including congenital glaucoma)
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Additional features:
(1) S (making it the PHACES syndrome): sternal cleft and/or supraumbilical raphe
(2) hypothyroidism
(3) cleft palate or lip
The Dandy-Walker syndrome (congenital hydrocephalus due to blockage at the foramina of Megendie and Luschka) is the most common CNS abnormality.
