61:
382:
In 1993, a correlation between large facial hemangiomas and brain defects among 9 subjects was reported. 3 years later, a larger case study was published showing a wider spectrum of grouped malformations. The association of anomalies and the PHACES acronym was first coined by Dr. Vail Reese and Dr.
386:
The hemangioma growth phase can last anywhere from 6 to 18 months. Then involution, or healing, of the hemangioma begins. Laser and other surgeries can usually make a substantial positive impact on appearance. Long after the hemangioma recedes, any damage it or the other defects caused may remain.
313:
Due to the disorder's rarity, there are no standardized treatment protocols or guidelines and no medical treatment trials for affected individuals as of 2022. Various treatments have been reported in the medical literature as part of single case reports or small series of patients.
383:
Ilona
Frieden in 1996, making it a newly described syndrome. A diagnosis is generally made from the physical examination, along with imaging of the head and chest, and an eye examination. PHACE is most commonly diagnosed among female infants. Long-term quality of life varies.
268:
As it grows, the hemangioma can break down the skin, distort facial features, or get in the way of other vital functions, such as breathing, vision, and hearing. Further complications will depend on what other structures are involved. These could include developmental delay,
369:
PHACE syndrome needs to be managed by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved. The experts pay close attention to how these children develop throughout school-age.
513:
Haggstrom, AN; Garzon, MC; Baselga, E; Chamlin, SL; Frieden, IJ; Holland, K; Maguiness, S; Mancini, AJ; McCuaig, C; Metry, DW; Morel, K; Powell, J; Perkins, SM; Siegel, D; Drolet, BA (2010). "Risk for PHACE syndrome in infants with large facial hemangiomas".
373:
Since the establishment of the PHACE syndrome community non-profit in 2013, it has been raising awareness about the condition, supporting patients and families of those with the disease, and raising money for research into causes and treatment.
140:
Hemangiomas associated with PHACE syndrome are generally small or not visible at birth, but often escalate after days or weeks, gradually becoming easier to see. They also tend to cover a large area of the face, head, or neck, either as one
798:
Frieden, IL; Reese, V; Cohen, D (Mar 1996). "PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities".
17:
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Since the initial sign of PHACE syndrome is usually a large facial hemangioma, infants born with this condition should be further evaluated to diagnose or rule out PHACE syndrome through a series of
112:
defects" and/or "Supraumbilical raphe." PHACE syndrome may affect infants with large plaque-type facial hemangiomas. Children who present this skin condition should receive careful
317:
Physicians treat specific complications and effects of the disorder in order to improve the lives of patients. Treatment usually involves collaboration between many
124:
assessment. According to one study of infants with large hemangiomas, one-third have symptoms consistent with the diagnosis of PHACE syndrome. The most common are
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891:
454:
18:
Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome
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401:
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on the infant to observe any abnormalities. If abnormalities are detected on these scans, the infant may have PHACE syndrome.
298:
406:
73:
is a medical condition characterized by uncommon associations between birth defects of the brain, skin (large facial
294:
557:
Thorpe, Jeremy; Osei-Owusa, Ikeoluwa; Erlanger
Avigdor, Bracha; Tupler, Rossella; Pevsner, Jonathan (2022-09-11).
354:
98:
125:
81:
77:), arteries, heart and eyes. "PHACE" is an acronym for the parts of the body the syndrome usually impacts:
318:
257:
233:
74:
60:
346:
539:
301:(MRA) of the head, neck, and chest. Following the imaging tests, the physician should perform an
252:. Research is complicated due to the mosaic nature of the disease. The disorder may be caused by
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864:
816:
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588:
531:
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239:
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49:
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The cause of PHACE syndrome is currently unknown. Researchers believe that it is caused by a
808:
765:
754:"Association of facial hemangioma with Dandy-Walker and other posterior fossa malformations"
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570:
523:
487:
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Metry, DW; Dowd, CF; Barkovich, AJ; Frieden, IJ (2001). "The many faces of PHACE syndrome".
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54:
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427:"PHACE syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "
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Pascual–Castroviejo type II syndrome, P-CIIS, Pascual–Castroviejo syndrome type 2
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169:, an important artery that supplies the brain with nutrients during
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Patients with PHACE syndrome may also experience symptoms such as:
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Congenital condition of brain, cardiovascular and eye abnormalities
680:"PHACE Syndrome - NORD (National Organization for Rare Disorders)"
607:"PHACE Syndrome - NORD (National Organization for Rare Disorders)"
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Narrowing, abnormal growth, or absence of a major cerebral artery.
117:
858:
88:
321:. These medical professionals include, but are not limited to,
752:; Levy, ML; Gellis, SE; Siegfried, EC (March 26, 1993).
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abnormalities and other structural brain abnormalities.
835:
839:
387:Migraines are common, as are developmental delays.
48:
40:
35:
748:Reese, V; Frieden, IJ; Paller, AS; Esterly, NB;
684:NORD (National Organization for Rare Disorders)
660:NORD (National Organization for Rare Disorders)
611:NORD (National Organization for Rare Disorders)
8:
203:Gaps in the wall between the left and right
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193:Abnormal structure of the back of the eye.
59:
32:
582:
559:"Mosaicism in Human Health and Disease"
418:
245:, or a mutation that can occur on any
7:
449:
447:
575:10.1146/annurev-genet-041720-093403
94:Arterial cerebrovascular anomalies.
25:
723:Children's Hospital of Wisconsin
635:Children's Hospital of Wisconsin
173:, as well as others after birth.
260:, or a combination of the two.
145:or as many individual lesions.
101:and other aortic abnormalities.
892:Cutaneous congenital anomalies
1:
770:10.1016/s0022-3476(05)83420-1
455:"PHACE Symptoms & Causes"
299:magnetic resonance angiograms
407:List of cutaneous conditions
402:Rosenthal–Kloepfer syndrome
190:around the heart and brain.
908:
813:10.1001/archderm.132.3.307
704:"PHACE Syndrome Community"
459:Boston Children's Hospital
281:if the brain is affected.
719:"PHACE Syndrome handbook"
563:Annual Review of Genetics
480:The Journal of Pediatrics
431:rarediseases.info.nih.gov
295:magnetic resonance images
801:Archives of Dermatology
492:10.1067/mpd.2001.114880
223:Cause and complications
528:10.1542/peds.2009-3166
89:cervical facial region
758:Journal of Pediatrics
319:medical professionals
258:environmental factors
176:Abnormalities of the
87:Hemangioma(s) of the
75:infantile hemangiomas
279:abnormal muscle tone
361:; and many others.
355:speech pathologists
136:Signs and symptoms
99:aortic coarctation
879:
878:
347:otolaryngologists
210:Anomalies of the
171:fetal development
167:trigeminal artery
97:Cardiac defects,
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30:Medical condition
16:(Redirected from
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725:. Archived from
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656:"PHACE Syndrome"
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631:"PHACE syndrome"
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335:endocrinologists
327:ophthalmologists
291:radiologic tests
165:Presence of the
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55:Medical genetics
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729:on 16 July 2016
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254:genetic factors
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126:cerebrovascular
82:Posterior fossa
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840:Classification
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832:External links
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807:(3): 307–311.
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764:(3): 379–384.
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717:Drolet, Beth.
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522:(2): e418–26.
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130:cardiovascular
114:ophthalmologic
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104:Eye anomalies.
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71:PHACE syndrome
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36:PHACE Syndrome
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486:(1): 117–23.
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397:Sternal cleft
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359:psychiatrists
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264:Complications
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781:. Retrieved
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727:the original
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339:neurologists
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750:Ferriero, D
569:: 487–510.
234:postzygotic
184:Blood clots
157:aortic arch
132:anomalies.
41:Other names
865:DiseasesDB
783:10 October
689:2018-10-25
665:2022-07-11
640:2018-10-25
616:2018-10-25
516:Pediatrics
464:2018-10-24
413:References
365:Management
250:chromosome
205:ventricles
178:cerebellum
122:neurologic
309:Treatment
297:(MRI) or
285:Diagnosis
275:headaches
247:autosomal
212:pituitary
196:Abnormal
153:Anomalies
50:Specialty
886:Category
593:32916079
544:25928589
536:20643720
500:11445804
436:27 April
391:See also
351:dentists
293:such as
271:seizures
243:mutation
821:8607636
778:8441091
584:8483770
378:History
341:and or
237:somatic
198:sternum
186:in the
155:of the
118:cardiac
110:Sternal
859:606519
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733:6 June
591:
581:
542:
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277:, and
240:mosaic
143:lesion
120:, and
57:
870:34139
540:S2CID
228:Cause
854:OMIM
817:PMID
785:2016
774:PMID
735:2022
589:PMID
532:PMID
496:PMID
438:2019
214:and
128:and
809:doi
805:132
766:doi
762:122
579:PMC
571:doi
524:doi
520:126
488:doi
484:139
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