Anomalies Reported in PHACE Syndrome
| Category | Abnormality |
|---|---|
| Structural brain | Posterior fossa |
| Dandy-Walker complex | |
| Cerebellar hypoplasia/atrophy | |
| Subependymal and arachnoid cysts | |
| Hypoplasia or agenesis of | |
| Cerebrum | |
| Corpus callosum | |
| Septum pellucidum | |
| Vermis | |
| Polymicrogyria | |
| Microcephaly | |
| Heterotopia | |
| Absent pituitary or partially empty sella turcica | |
| Cerebrovascular | Dysplasia of the large cerebral arteries |
| Absence or moderate to severe hypoplasia of the large cerebral arteries | |
| Aberrant origin or course of the large cerebral arteries | |
| Saccular aneurysms | |
| Persistent embryonic arteries (predominantly trigeminal) | |
| Pial enhancement | |
| Cerebral sinus malformations | |
| Sinus pericranii | |
| Dural arteriovenous malformations/pial malformations | |
| Intracranial hemangioma | |
| Arterial stenosis or occlusion with or without moyamoya collaterals | |
| Absent foramen lacerum | |
| Acute arterial stroke | |
| Cardiovascular | Coarctation or interrupted aortic arch (most often transverse section) |
| Aneurysms of aortic arch | |
| Right aortic arch | |
| Double aortic arch | |
| Congenital valvular aortic stenosis | |
| Aberrant origin of a subclavian with or without a vascular ring | |
| Stenosis, occlusion, absence, or moderate to severe hypoplasia of the vertebral arteries | |
| Subclavian steal syndrome | |
| Anomalous coronary arteries | |
| Patent ductus arteriosus | |
| Anomalous pulmonary veins | |
| Patent foramen ovale | |
| Cor triatriatum | |
| Tricuspid atresia/stenosis | |
| Dextrocardia | |
| Persistent left superior vena cava | |
| Ventricular and atrial septal defects | |
| Pulmonary stenosis | |
| Tetralogy of Fallot | |
| Ocular | Retinal vascular abnormalities |
| Persistent fetal vasculature | |
| Iris vessel hypertrophy | |
| “Morning-glory” disc | |
| Peripapillary staphyloma | |
| Optic nerve hypoplasia | |
| Microphthalmia | |
| Coloboma | |
| Congenital cataracts | |
| Sclerocornea | |
| Iris hypoplasia | |
| Exophthalmous | |
| Congenital third nerve palsy | |
| Horner syndrome | |
| Ventral developmental | Partial or complete agenesis of sternum |
| Sternal cleft or pit | |
| Sternal papule | |
| Lingual ectopic thyroid | |
| Supraumbilical raphe | |
| Omphalocele | |
| Miscellaneous | Pituitary insufficiency |
| Micrognathia | |
| Auricular hypoplasia or agenesis/“low-set” ears | |
| Orofacial clefting | |
| Spinal dysraphism | |
| Esophageal diverticulum | |
| Cervical cyst | |
| Ipsilateral sensorineural hearing loss |