Raras
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Síndrome PHACE
ORPHA:42775CID-10 · Q28.8CID-11 · LD2F.1YOMIM 606519DOENÇA RARA

PHACE é um acrônimo usado para descrever uma síndrome caracterizada pela associação de malformações cerebrais da fossa posterior, grandes hemangiomas faciais, anomalias anatômicas das artérias cerebrais, coarctação da aorta e outras anomalias cardíacas, e anormalidades oculares. Às vezes, anomalias esternais também estão presentes e, nesses casos, a síndrome é chamada de PHACES. Duas manifestações adicionais foram recentemente adicionadas ao espectro clínico da síndrome PHACE: estenose dos vasos da base do crânio e dilatações longitudinais segmentares da artéria carótida interna.

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Introdução

O que você precisa saber de cara

📋

PHACE é um acrônimo usado para descrever uma síndrome caracterizada pela associação de malformações cerebrais da fossa posterior, grandes hemangiomas faciais, anomalias anatômicas das artérias cerebrais, coarctação da aorta e outras anomalias cardíacas, e anormalidades oculares. Às vezes, anomalias esternais também estão presentes e, nesses casos, a síndrome é chamada de PHACES. Duas manifestações adicionais foram recentemente adicionadas ao espectro clínico da síndrome PHACE: estenose dos vasos da base do crânio e dilatações longitudinais segmentares da artéria carótida interna.

Pesquisas ativas
2 ensaios
4 total registrados no ClinicalTrials.gov
Publicações científicas
285 artigos
Último publicado: 2026 Mar 25

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
300
pacientes catalogados
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q28.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

❤️
Coração
8 sintomas
🧠
Neurológico
8 sintomas
👁️
Olhos
8 sintomas
📏
Crescimento
4 sintomas
😀
Face
3 sintomas

+ 22 sintomas em outras categorias

Características mais comuns

90%prev.
Morfologia anormal da artéria cerebral
Muito frequente (99-80%)
55%prev.
Microftalmia
Frequente (79-30%)
55%prev.
Malformação de Dandy-Walker
Frequente (79-30%)
55%prev.
Morfologia anormal do coração
Frequente (79-30%)
55%prev.
Malformação arteriovenosa cerebral
Frequente (79-30%)
55%prev.
Hipoplasia do nervo óptico
Frequente (79-30%)
53sintomas
Muito frequente (1)
Frequente (7)
Ocasional (26)
Sem dados (19)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 53 características clínicas mais associadas, ordenadas por frequência.

Morfologia anormal da artéria cerebralAbnormal cerebral artery morphology
Muito frequente (99-80%)90%
MicroftalmiaMicrophthalmia
Frequente (79-30%)55%
Malformação de Dandy-WalkerDandy-Walker malformation
Frequente (79-30%)55%
Morfologia anormal do coraçãoAbnormal heart morphology
Frequente (79-30%)55%
Malformação arteriovenosa cerebralCerebral arteriovenous malformation
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico285PubMed
Últimos 10 anos171publicações
Pico201919 papers
Linha do tempo
2026Hoje · 2026🧪 2007Primeiro ensaio clínico📈 2019Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome PHACE

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

4 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
171 papers (10 anos)
#1

Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.

Clinical medicine insights. Pediatrics2026 Feb 19

Stridor is a common presenting complaint in infancy. Its aetiology ranges from benign to severe, life-threatening conditions. We report here a 2-month-old child who presented with respiratory distress and stridor since 20 days of life, with intermittent worsening. On examination, there was a haemangioma on the right ear lobe. A similar lesion in the airway was suspected, and flexible bronchoscopy revealed an airway haemangioma in the larynx extending up to the carina. Further workup was performed given haemangioma in the facial region that led to a diagnosis of the Posterior fossa malformations, Arterial anomalies, and Coarctation of the aorta, along with other cardiac defects and Eye abnormalities (PHACE) syndrome. Following oral propranolol, there was a significant improvement in symptoms. This case highlights that airway haemangioma should be suspected in infants presenting with stridor and haemangioma, especially in the facial area. Once the diagnosis is confirmed, the child should be further evaluated for underlying PHACE syndrome.

#2

Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2026 Feb 07

Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies (PHACE) is a neurocutaneous disorder characterized by various neuroimaging abnormalities, including cranio-cervical arterial anomalies. The purpose of this multi-center study is to assess the long-term evolution of neuroimaging findings in PHACE, with focus on progressive arteriopathy and intracranial hemangioma. Patients with definite PHACE who were ≥10 years of age were recruited from 16 sites. A pediatric neuroradiologist retrospectively reviewed clinical MRI/MRA or CTA reports collected from two timepoints: neuroimaging performed closest to 1 year of life and the latest available neuroimaging at the time of recruitment. Brain structural abnormalities (including intracranial hemangiomas), infarcts, cerebrovascular anomalies (including vascular risk score) and evidence of progressive arteriopathy were identified. Study included 83 patients with definite PHACE (median age at recruitment: 14 years (IQR: 12-18)) with a median of 9 years (IQR: 6-12) between scans. Progression of arteriopathy was identified in 20/68 (29.4%), including 5/68 (7%) with Moyamoya arteriopathy. The vascular risk score at initial imaging was not associated with progressive arteriopathy. Two children (2%) had infarcts; one of whom had a progressive arteriopathy. The presence of intracranial hemangioma was associated with Meckel's cave enlargement and follow-up imaging suggests Meckel's cave enlargement may at least partly be related to involution of an intracranial hemangioma. Almost one third of children with PHACE had a progressive cerebrovascular arteriopathy on long term follow-up imaging, but infarcts were rare. Further research is necessary to guide recommendations on duration and frequency of imaging surveillance.

#3

Early diagnosis of PHACE syndrome following antenatal diagnosis of cerebellar abnormality.

Archives of disease in childhood. Fetal and neonatal edition2026 Feb 11
#4

A 4-week-old with a segmental hemangioma, sternal defect, and posterior fossa malformation.

JAAD case reports2026 Feb
#5

Beta-blockers efficacy and safety in the treatment of PHACE syndrome: A systematic review.

Journal of the European Academy of Dermatology and Venereology : JEADV2026 Apr

Publicações recentes

Ver todas no PubMed

📚 EuropePMC193 artigos no totalmostrando 167

2026

Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.

Clinical medicine insights. Pediatrics
2026

Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2026

Early diagnosis of PHACE syndrome following antenatal diagnosis of cerebellar abnormality.

Archives of disease in childhood. Fetal and neonatal edition
2026

A 4-week-old with a segmental hemangioma, sternal defect, and posterior fossa malformation.

JAAD case reports
2025

A Unique Case of Beard-Distributed Infantile Hemangioma With Subglottic Extension and Evaluation for PHACE Syndrome.

Ear, nose, &amp; throat journal
2025

LUMBAR Syndrome State-Of-The-Art Review: Insights Into a Rare and Complex Condition.

Pediatric dermatology
2025

Generation of human induced pluripotent stem cell lines from patients with PHACE syndrome.

Stem cell research
2026

Beta-blockers efficacy and safety in the treatment of PHACE syndrome: A systematic review.

Journal of the European Academy of Dermatology and Venereology : JEADV
2025

PHACE syndrome: looking backward and forward.

Orphanet journal of rare diseases
2025

Connecting prenatal ultrasound characteristics with postnatal findings in a case of PHACE syndrome.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

Unilateral Facial Swelling in a One-Month-Old Male - An Atypical Presentation of Infantile Hemangioma: Case Report.

Integrative medicine (Encinitas, Calif.)
2025

A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome.

Molecular genetics &amp; genomic medicine
2025

Manifestation of a Vestibular Schwannoma in a Patient With PHACE Syndrome.

Cureus
2025

Putting LUMBAR on Your Radar.

Pediatric annals
2025

Congenital Cutaneous Hamartomas With Skeletal Muscle Differentiation Associated With LUMBAR Syndrome.

Pediatric dermatology
2025

Oral propranolol and its impact on vital signs in hospitalized pediatric patients for the Management of Infantile Hemangiomas.

Pediatric dermatology
2025

Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta.

Frontiers in cardiovascular medicine
2025

Safety of beta blockers for the treatment of PHACE syndrome: A systematic review.

Journal of the American Academy of Dermatology
2024

Most common congenital syndromes with facial asymmetry: A narrative review.

Dental and medical problems
2025

PHACEing a challenging diagnosis: Should we expand the phenotype?

Journal of medical imaging and radiation oncology
2024

PHACE syndrome: A review.

Seminars in pediatric neurology
2024

In vivo angle dysgenesis in PHACE syndrome with developmental glaucoma.

BMJ case reports
2024

Infantile Hemangioma with Minimal or Arrested Growth (IHMAG): A Retrospective Analysis of Clinical and Dermoscopic Diagnostic Clues.

Dermatology practical &amp; conceptual
2024

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

The Journal of pediatrics
2024

Beyond Infantile Hemangiomas: A Glimpse into Overlapping Rare Syndromes Emphasizing the Vigilant Screening for PHACE and LUMBAR Syndromes.

Case reports in pediatrics
2024

Are repeat neuroimaging studies needed in PHACE syndrome?

Developmental medicine and child neurology
2024

Long-term clinical and radiological trajectories of craniocervical vasculopathy in children with PHACE syndrome.

Developmental medicine and child neurology
2024

PHACE syndrome: a case report and a comprehensive review.

Annals of medicine and surgery (2012)
2024

The Importance of Primary Care Physicians in the Diagnosis and Exclusion of Rare Syndromes: A Case Study of Ruling Out PHACE Syndrome.

Cureus
2024

Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

The Journal of pediatrics
2024

A rare case of neonatal PHACE syndrome with thyroid deficiency.

Asian journal of surgery
2024

Beard neonatal hemangioma: report of a PHACE syndrome.

Acta neurologica Belgica
2023

Propranolol Treatment for Facial Hemangioma in a Patient with Dandy-Walker Malformation and PHACE Syndrome: A Case Report.

Indian journal of dermatology
2023

PHACE syndrome: not always 'tilting telephones' and Dandy-Walker malformations….

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome.

Neuropediatrics
2023

Congenital panhypopituitarism unmasked by PHACE screening.

JAAD case reports
2023

Propranolol for the Treatment of Hemangioma in PHACE Syndrome: A Case Report.

Cureus
2023

[Current status and update of infantile hemangioma in diagnosis and therapy].

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]
2024

Pediatric Moyamoya Revascularization Perioperative Care: A Modified Delphi Study.

Neurocritical care
2023

An unusual case of unilateral vascular hypoplasia in an adult patient - late diagnosis of PHACE syndrome.

International journal of cardiology. Congenital heart disease
2024

PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome.

Indian journal of pediatrics
2023

PHACE Syndrome: Dramatic Response to Propranolol.

Indian dermatology online journal
2023

Long-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2023

PHACES-like syndrome with TMEM260 compound heterozygous variants.

American journal of medical genetics. Part A
2023

Surgical repair of interrupted right-sided cervical aortic arch with hypoplasia of the descending thoracic aorta in a child with PHACE syndrome.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2024

Adult PHACE Syndrome Presenting With Visual Field Loss: A Case Report and Review of the Literature.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2023

Repair of Tortuous Distal Aortic Arch Aneurysm in a 1-Year-Old Girl With PHACE Syndrome.

Annals of thoracic surgery short reports
2022

"Face(s)" of a PHACE(S) Syndrome Patient before and after Therapy: Particular Case Report and Review of Literature.

Children (Basel, Switzerland)
2022

Intracranial hemangioma-associated cranial nerve VII palsy treated with propranolol in an infant with possible PHACE syndrome.

Pediatric dermatology
2023

Sirolimus for diffuse intestinal infantile hemangioma with PHACE features: systematic review.

Pediatric research
2022

Successful Management in an Infant Patient of PHACE Syndrome with a Complicated Aortic Arch Anomaly.

Case reports in pediatrics
2022

Clinical overlap of PHACE and LUMBAR syndromes.

Pediatric dermatology
2022

The riddle of PHACE syndrome.

Journal of the European Academy of Dermatology and Venereology : JEADV
2023

Operative Surveillance of Airway Hemangiomas in PHACE Syndrome.

The Annals of otology, rhinology, and laryngology
2022

A rare combination of post-ductal coarctation of the aorta and adjunct tortuous aneurysm: a neonate with Posterior fossa anomalies, Haemangiomas of the head and neck, Arterial, Cardiovascular, and Eye anomalies and ventral developmental defect syndrome.

Cardiology in the young
2022

Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363-1367. Doi:10.1002/ajmg.a.35341.

American journal of medical genetics. Part A
2021

Infantile haemangiomas: Identifying high-risk lesions in primary care.

Australian journal of general practice
2021

Phace Syndrome in Children: Two Case Reports.

Radiology case reports
2021

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.

Frontiers in pediatrics
2022

The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.

Current problems in diagnostic radiology
2021

Truncus arteriosus as presentation of PHACE syndrome.

BMJ case reports
2021

Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.

Journal of the American Academy of Dermatology
2021

Neonatal presentation of PHACE syndrome.

BMJ case reports
2021

Neuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes.

AJNR. American journal of neuroradiology
2021

PHACE syndrome: A remarkable phakomatosis.

Pediatrics and neonatology
2021

PHACE Syndrome Presenting as Transient Ischemic Attack.

Neurology India
2021

Scepter-Mini Balloon Assisted Coil Embolization of an Intracranial Arterial Aneurysm in a Child with PHACE Syndrome via a Persistent Trigeminal Artery.

Neurointervention
2021

Arteriopathy in pediatric stroke: an underestimated clinical entity.

Arquivos de neuro-psiquiatria
2021

Association of Demographic Factors and Infantile Hemangioma Characteristics With Risk of PHACE Syndrome.

JAMA dermatology
2021

PHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy.

Cureus
2020

PHACES Syndrome with Intestinal Hemangioma Causing Recurrent Intussusceptions: A Case Report and Literature Review of Associated Intestinal Hemangioma.

Oman medical journal
2021

Arterial Spin-Labeling Perfusion for PHACE Syndrome.

AJNR. American journal of neuroradiology
2021

Airway Hemangiomas in PHACE Syndrome: A Multicenter Experience.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2020

Utilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: a case of arterial stenosis and dissection.

BMJ case reports
2020

PHACE syndrome in a preterm infant.

Neurology
2020

Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome.

Arquivos brasileiros de oftalmologia
2021

Persistent second cervical intersegmental artery in a case of possible PHACE syndrome.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2020

Sternal cleft and segmental facial hemangiomas in children with phaces syndrome: effectiveness and safety of conservative management and surgical correction.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2022

Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2021

PHACE Syndrome in a Child with Structural Malformations of the Brain.

Journal of pediatric genetics
2020

Hemangioma-related syndromes.

Current opinion in pediatrics
2020

Unrelenting facial segmental hemangiomas: A case series of late growth and recurrent ulcerations.

Pediatric dermatology
2020

Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study.

Neuroepidemiology
2020

PHACE syndrome: importance of distinguishing infantile haemangioma from capillary malformation.

Archives of disease in childhood. Fetal and neonatal edition
2020

Frey syndrome-like developmental dysautonomia in a child with PHACE syndrome.

Pediatric dermatology
2020

Segmental infantile hemangioma and concomitant hypertension in three African American neonates.

Pediatric dermatology
2020

PHACE Syndrome: A Rare Case.

Journal of pediatric genetics
2019

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome.

Case reports in genetics
2020

Evaluating the Safety of Oral Propranolol Therapy in Patients With PHACE Syndrome.

JAMA dermatology
2019

Intrathoracic hybrid lesion: an incidental finding in a patient with PHACE syndrome.

BMJ case reports
2019

Facial segmental haemangioma with PHACE Syndrome successfully treated with oral propranolol.

The Medical journal of Malaysia
2019

PHACE syndrome and hearing loss.

Anais brasileiros de dermatologia
2019

Transient ischemic attack in elderly patient with PHACE syndrome.

Surgical neurology international
2020

Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes.

Pediatric dermatology
2019

A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2019

Infantile hemangioma of the upper lip and enamel hypoplasia: Two case reports.

Pediatric dermatology
2019

Dieulafoy lesions and PHACE syndrome.

Pediatric dermatology
2019

Endocrine manifestations of PHACE syndrome.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2019

Natural history of PHACE syndrome: A survey of adults with PHACE.

Pediatric dermatology
2019

Surgery on a dilated aorta associated with a connective tissue disease or inflammatory vasculitis in children and adolescents.

Cardiology in the young
2019

[Infantile haemangioma: an update].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2019

PHACE syndrome with unnoticeable skin lesion and rare anomaly of coronary artery.

Pediatrics international : official journal of the Japan Pediatric Society
2019

Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

Dental root abnormalities in four children with PHACE syndrome.

Pediatric dermatology
2019

Persistent stapedial artery in PHACE syndrome.

European annals of otorhinolaryngology, head and neck diseases
2019

Moyamoya syndrome and PHACE syndrome: clinical and radiographic characterization of the intracranial arteriopathy and response to surgical revascularization.

Journal of neurosurgery. Pediatrics
2018

Unsolved recognizable patterns of human malformation: Challenges and opportunities.

American journal of medical genetics. Part C, Seminars in medical genetics
2018

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.

American journal of medical genetics. Part C, Seminars in medical genetics
2018

Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma.

Pediatric neurosurgery
2019

Late growth of infantile hemangiomas in children >3 years of age: A retrospective study.

Journal of the American Academy of Dermatology
2019

Ocular Complications in PHACE Syndrome: A True Association or a Coincidence?

The Journal of pediatrics
2018

Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome.

Pediatric dermatology
2017

[Diagnostic criteria and treatment progress of PHACE syndrome].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2018

PHACE syndrome: clinical manifestations, diagnostic criteria, and management.

Anais brasileiros de dermatologia
2018

Regarding: "Localized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery".

AJNR. American journal of neuroradiology
2018

Infantile hemangiomas: what have we learned from propranolol?

Current opinion in pediatrics
2018

Hearing loss in PHACE syndrome: clinical and radiologic findings.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

Distal aortic arch aneurysm in an adult case of PHACE syndrome.

Interactive cardiovascular and thoracic surgery
2018

Open resection and laryngotracheal reconstruction in a case of subglottic hemangioma in PHACE syndrome.

International journal of pediatric otorhinolaryngology
2018

Localized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery.

AJNR. American journal of neuroradiology
2017

[What's new in pediatric dermatology?].

Annales de dermatologie et de venereologie
2017

[Research progresses in the pathogenesis, diagnosis and treatment of infantile hemangioma with PHACE syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2017

Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome.

International journal of pediatric otorhinolaryngology
2018

PHACE Syndrome-before and after Propranolol Therapy.

The Journal of pediatrics
2018

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

American journal of medical genetics. Part A
2017

PHACE syndrome in a child with segmental IH of face.

BMJ case reports
2017

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

World neurosurgery
2017

Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository.

The Journal of pediatrics
2017

Cardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2017

When Faced With Anesthetizing an Infant With PHACE Syndrome: Watch Out for an Airway-Occluding Subglottic Hemangioma!

A &amp; A case reports
2017

Peters anomaly in PHACE syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2017

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.

American journal of medical genetics. Part A
2017

PHACE(S) syndrome: Report of a case with new ocular and systemic manifestations.

Journal of current ophthalmology
2017

PHACE syndrome and cerebral cavernous malformations: association or simply microhemorrhages?

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2017

Tips and tricks to optimize MRI protocols for cutaneous vascular anomalies.

Clinical imaging
2017

Use of propranolol in a remote region of rural Guatemala to treat a large facial infantile haemangioma.

BMJ case reports
2016

Aortic arch tortuosity with PHACE syndrome - a rare case scenario.

Images in paediatric cardiology
2017

Hemangioma, aortic coarctation and intracranial dolichoectasia: PHACE syndrome.

Pediatrics international : official journal of the Japan Pediatric Society
2017

Phace syndrome: is timolol gel a chance for treatment?

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

Segmental hemangioma of the head and neck: High prevalence of PHACE syndrome.

Journal of the American Academy of Dermatology
2016

Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome.

Journal of pediatric ophthalmology and strabismus
2016

PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.

The Journal of pediatrics
2015

[Neonatal use of propranolol for segmental facial hemangiomas].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2016

Infantile hemangiomas and structural anomalies: PHACE and LUMBAR syndrome.

Seminars in cutaneous medicine and surgery
2016

Neurodevelopmental Outcomes in Children with PHACE Syndrome.

Pediatric dermatology
2016

Gigantic vascular anomaly in a PHACE syndrome patient managed with photodynamic therapy.

Photodiagnosis and photodynamic therapy
2016

Aortic arch anomalies in PHACE syndrome: An individualized approach to an unusual problem.

The Journal of thoracic and cardiovascular surgery
2016

Aortic arch repair in children with PHACE syndrome.

The Journal of thoracic and cardiovascular surgery
2016

PHACE syndrome is associated with intracranial cavernous malformations.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2016

Fetal Alcohol Exposure and PHACE Syndrome: A Case and Autopsy Report.

Pediatric dermatology
2016

PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature.

BMJ case reports
2016

PHACE syndrome and congenitally absent thyroid gland at MR imaging.

Clinical imaging
2016

Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2015

Mosaic Neurocutaneous Disorders and Their Causes.

Seminars in pediatric neurology
2016

Wilms Tumor in a Child With Bilateral Polycystic Kidneys and PHACE Syndrome: Successful Treatment Outcome Using Partial Nephrectomy and Chemotherapy.

Journal of pediatric hematology/oncology
2015

Anesthetic Management of a Parturient with PHACE Syndrome for Cesarean Delivery.

A &amp; A case reports
2016

PHACE syndrome--clinical features, aetiology and management.

Acta paediatrica (Oslo, Norway : 1992)
2016

Office-Based Subglottic Evaluation in Children With Risk of Subglottic Hemangioma.

The Annals of otology, rhinology, and laryngology
2015

Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?

Pediatric dermatology
2016

Bilateral pial synangiosis in a child with PHACE syndrome.

Journal of neurosurgery. Pediatrics
2016

Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome.

Journal of child neurology
2015

Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome.

Case reports in dermatological medicine
2015

PHACE syndrome misdiagnosed as a port-wine stain.

BMJ case reports
2015

Simultaneous Repair of Right-Sided Coarctation and Vascular Ring.

The Annals of thoracic surgery
2015

Neuroimaging Manifestations of PHACE Syndrome.

Pediatric neurology
2015

[Infantile segmental hemangioma without facial involvement: A cutaneous marker of vascular malformations such as in PHACE syndrome?].

Annales de dermatologie et de venereologie
2015

Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course.

Echocardiography (Mount Kisco, N.Y.)
Ver todos os 193 no EuropePMC

Associações

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Comunidades

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.
    Clinical medicine insights. Pediatrics· 2026· PMID 41727672mais citado
  2. Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41702291mais citado
  3. Early diagnosis of PHACE syndrome following antenatal diagnosis of cerebellar abnormality.
    Archives of disease in childhood. Fetal and neonatal edition· 2026· PMID 41672752mais citado
  4. A 4-week-old with a segmental hemangioma, sternal defect, and posterior fossa malformation.
    JAAD case reports· 2026· PMID 41537011mais citado
  5. Beta-blockers efficacy and safety in the treatment of PHACE syndrome: A systematic review.
    Journal of the European Academy of Dermatology and Venereology : JEADV· 2026· PMID 40746024mais citado
  6. PHACE syndrome: report of five cases.
    An Bras Dermatol· 2026· PMID 41887126recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:42775(Orphanet)
  2. OMIM OMIM:606519(OMIM)
  3. MONDO:0011676(MONDO)
  4. GARD:8338(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q3377927(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome PHACE
Compêndio · Raras BR

Síndrome PHACE

ORPHA:42775 · MONDO:0011676
Prevalência
<1 / 1 000 000
Casos
300 casos conhecidos
Herança
Unknown
CID-10
Q28.8 · Outras malformações congênitas especificadas do aparelho circulatório
CID-11
Ensaios
2 ativos
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1847874
EuropePMC
Wikidata
Wikipedia
Papers 10a
Evidência
🥉 Relato de caso
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