MCID: PHC004
MIFTS: 32

Phace Syndrome malady

Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Phace Syndrome

About this section
Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Phace Syndrome:

Name: Phace Syndrome 45 51
Phace Association 45 65
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 45
Pascual-Castroviejo Type Ii Syndrome 45
 
Pascual-Castroviejo Syndrome Type 2 51
Phaces Association 45
P-Ciis 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
phace syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 42775
ICD10 via Orphanet28 Q28.8
UMLS via Orphanet66 C2242617

Summaries for Phace Syndrome

About this section
NIH Rare Diseases:45 Phace syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects.  people with phace syndrome may have posterior fossa brain malformations, hemangioma, arterial lesions (blood vessel abnormalities in the head or neck), cardiac (heart) abnormalities/aortic coarctation, and eye abnormalities. symptoms and symptom severity may vary from person to person. the cause of the condition is currently unknown. it affects girls much more often than boys. last updated: 11/14/2012

MalaCards based summary: Phace Syndrome, also known as phace association, is related to hemangioma and aortic coarctation, and has symptoms including capillary hemangioma/nevus/naevus flammeus/port-wine stain, anophthalmos/anophthalmia/microphthalmos/microphthalmia and glaucoma. Affiliated tissues include eye, brain and heart.

Related Diseases for Phace Syndrome

About this section

Graphical network of the top 20 diseases related to Phace Syndrome:



Diseases related to phace syndrome

Symptoms for Phace Syndrome

About this section

Symptoms:

 51 (show all 28)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • glaucoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cardiac septal defect
  • dandy-walker anomaly
  • microcephaly
  • aniridia/iris hypoplasia
  • coloboma of iris
  • sclerocornea
  • cataract/lens opacification
  • coloboma of the lens
  • retinal vascular anomalies/retinal telangiectasia
  • sternal/sternum anomalies
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • aortic root dilatation/dilation/aneurysm
  • carotid artery anomalies
  • visceral angiomatosis (excluding skin)
  • aortic arches anomalies
  • ectopic/agenesis/dysgenesis/hypoplastic thyroid
  • hypothyroidy
  • corpus callosum/septum pellucidum total/partial agenesis
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

Drugs & Therapeutics for Phace Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Hemangioma Associated With High Rates of MorbidityCompletedNCT00394888
2Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)RecruitingNCT01016756
3Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE SyndromeActive, not recruitingNCT01018082

Search NIH Clinical Center for Phace Syndrome

Genetic Tests for Phace Syndrome

About this section

Anatomical Context for Phace Syndrome

About this section

MalaCards organs/tissues related to Phace Syndrome:

33
Eye, Brain, Heart, Skin, Cerebellum, Thyroid

Animal Models for Phace Syndrome or affiliated genes

About this section

Publications for Phace Syndrome

About this section

Articles related to Phace Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Anesthetic Management of a Parturient with PHACE Syndrome for Cesarean Delivery. (26576049)
2015
2
PHACE Syndrome - Clinical Features, Aetiology and Management. (26469095)
2015
3
Bilateral pial synangiosis in a child with PHACE syndrome. (26405843)
2015
4
Neuroimaging Manifestations of PHACE Syndrome. (26092543)
2015
5
Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course. (25809619)
2015
6
PHACE syndrome in antenatally diagnosed posterior fossa anomaly. (25165652)
2014
7
PHACE syndrome, a series of six patients: clinical and morphological manifestations, propranolol efficacy, and safety. (24962639)
2014
8
Correction of aortic coarctation in a girl with severe PHACE syndrome. (25312304)
2014
9
Anesthesia for aortic reconstruction in a child with PHACE syndrome. (24748401)
2014
10
Tooth enamel hypoplasia in PHACE syndrome. (24916277)
2014
11
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome. (23653582)
2013
12
Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. (23316753)
2013
13
Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants. (22994362)
2013
14
What is your diagnosis? PHACE syndrome. (24153148)
2013
15
A 65-year-old woman diagnosed with PHACE syndrome. (23278462)
2013
16
PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report. (22010790)
2012
17
A case of congenital hypothyroidism in PHACE syndrome. (22876567)
2012
18
Candidate locus analysis for PHACE syndrome. (22544659)
2012
19
Airway hemangiomas in PHACE syndrome. (22865344)
2012
20
Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. (22442177)
2012
21
Use of propranolol for treatment of hemangiomas in PHACE syndrome. (22037156)
2011
22
Dental management of PHACE syndrome under general anesthesia. (22169841)
2011
23
Novel management of the microphthalmic orbit in a patient with PHACE syndrome. (21629142)
2011
24
Arteriovenous malformation: a rare manifestation of PHACE syndrome. (21504447)
2011
25
Risk for PHACE syndrome in infants with large facial hemangiomas. (20643720)
2010
26
Complex aortic coarctation and PHACE syndrome. (21070732)
2010
27
Association of hearing loss with PHACE syndrome. (20713775)
2010
28
Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area. (20061274)
2010
29
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. (19858157)
2009
30
PHACE syndrome. (19508485)
2009
31
Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome-a case report. (19142902)
2009
32
Large destructive facial hemangioma in PHACE syndrome. (20376253)
2009
33
PHACE syndrome associated with congenital oculomotor nerve palsy. (19551563)
2009
34
Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome? (18620881)
2008
35
Intracranial infantile hemangiomas associated with PHACE syndrome. (17213418)
2007
36
PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. (17560503)
2007
37
PHACE syndrome: a new case. (16523557)
2006
38
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. (16575892)
2006
39
Agenesis of bilateral internal carotid arteries and posterior fossa abnormality in a patient with facial capillary hemangioma: presumed incomplete phenotypic expression of PHACE syndrome. (16286414)
2005
40
A case of PHACE syndrome. (16197426)
2005
41
Otolaryngologic manifestations of PHACE syndrome. (15488979)
2004
42
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. (15492745)
2004
43
Cervico-cerebrovascular anomalies in children with PHACE syndrome. (12923590)
2003
44
Superior sternal cleft associated with PHACES syndrome: postnatal sonographic findings. (12636335)
2003
45
Cervicofacial hemangioma and its association with PHACE syndrome. (12748574)
2003
46
Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association. (12116276)
2002
47
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. (12116239)
2002
48
PHACE syndrome: new views on diagnostic criteria. (12548487)
2002
49
The many faces of PHACE syndrome. (11445804)
2001
50
Giant hemifacial angioma and PHACE syndrome. (9155991)
1997

Variations for Phace Syndrome

About this section

Expression for genes affiliated with Phace Syndrome

About this section
Search GEO for disease gene expression data for Phace Syndrome.

Pathways for genes affiliated with Phace Syndrome

About this section

GO Terms for genes affiliated with Phace Syndrome

About this section

Sources for Phace Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet