MCID: PHC004
MIFTS: 30

Phace Syndrome malady

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

Aliases & Classifications for Phace Syndrome

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Phace Syndrome, Aliases & Descriptions:

Name: Phace Syndrome 41 47
Pascual-Castroviejo Syndrome Type 2 41 47
Phace Association 41 60
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 41
 
Pascual-Castroviejo Type Ii Syndrome 41
Phaces Association 41
P-Ciis 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
pascual-castroviejo syndrome type 2:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 42775
ICD10 via Orphanet26 Q28.8
UMLS via Orphanet61 C2242617

Summaries for Phace Syndrome

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NIH Rare Diseases:41 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 pascual-castroviejo syndrome type 2, is related to hemangioma and congenital hypothyroidism, and has symptoms including glaucoma, optic atrophy and dandy-walker malformation. Affiliated tissues include eye, brain and heart.

Related Diseases for Phace Syndrome

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



Diseases related to phace syndrome

Symptoms for Phace Syndrome

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Symptoms:

 47 (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

HPO human phenotypes related to Phace Syndrome:

(show all 23)
id Description Frequency HPO Source Accession
1 glaucoma typical (50%) HP:0000501
2 optic atrophy typical (50%) HP:0000648
3 dandy-walker malformation typical (50%) HP:0001305
4 abnormality of the cardiac septa typical (50%) HP:0001671
5 microcephaly occasional (7.5%) HP:0000252
6 cataract occasional (7.5%) HP:0000518
7 iris coloboma occasional (7.5%) HP:0000612
8 sclerocornea occasional (7.5%) HP:0000647
9 abnormality of the sternum occasional (7.5%) HP:0000766
10 hypothyroidism occasional (7.5%) HP:0000821
11 seizures occasional (7.5%) HP:0001250
12 muscular hypotonia occasional (7.5%) HP:0001252
13 tetralogy of fallot occasional (7.5%) HP:0001636
14 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
15 dilatation of the ascending aorta occasional (7.5%) HP:0005111
16 abnormality of the carotid arteries occasional (7.5%) HP:0005344
17 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
18 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
19 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
20 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
21 cognitive impairment occasional (7.5%) HP:0100543
22 lens coloboma occasional (7.5%) HP:0100719
23 visceral angiomatosis occasional (7.5%) HP:0100761

Drugs & Therapeutics for Phace Syndrome

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Drug clinical trials:

Search ClinicalTrials for Phace Syndrome

Search NIH Clinical Center for Phace Syndrome

Genetic Tests for Phace Syndrome

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Anatomical Context for Phace Syndrome

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MalaCards organs/tissues related to Phace Syndrome:

31
Eye, Brain, Heart, Cerebellum, Thyroid, Skin

Animal Models for Phace Syndrome or affiliated genes

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Publications for Phace Syndrome

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Articles related to Phace Syndrome:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course. (25809619)
2015
2
PHACE syndrome in antenatally diagnosed posterior fossa anomaly. (25165652)
2014
3
PHACE syndrome, a series of six patients: clinical and morphological manifestations, propranolol efficacy, and safety. (24962639)
2014
4
Correction of aortic coarctation in a girl with severe PHACE syndrome. (25312304)
2014
5
Anesthesia for aortic reconstruction in a child with PHACE syndrome. (24748401)
2014
6
Tooth enamel hypoplasia in PHACE syndrome. (24916277)
2014
7
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome. (23653582)
2013
8
Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. (23316753)
2013
9
Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants. (22994362)
2013
10
What is your diagnosis? PHACE syndrome. (24153148)
2013
11
A 65-year-old woman diagnosed with PHACE syndrome. (23278462)
2013
12
PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report. (22010790)
2012
13
A case of congenital hypothyroidism in PHACE syndrome. (22876567)
2012
14
Candidate locus analysis for PHACE syndrome. (22544659)
2012
15
Airway hemangiomas in PHACE syndrome. (22865344)
2012
16
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
17
PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review. (22347351)
2012
18
Use of propranolol for treatment of hemangiomas in PHACE syndrome. (22037156)
2011
19
Dental management of PHACE syndrome under general anesthesia. (22169841)
2011
20
Novel management of the microphthalmic orbit in a patient with PHACE syndrome. (21629142)
2011
21
Arteriovenous malformation: a rare manifestation of PHACE syndrome. (21504447)
2011
22
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. (21674285)
2011
23
Risk for PHACE syndrome in infants with large facial hemangiomas. (20643720)
2010
24
Complex aortic coarctation and PHACE syndrome. (21070732)
2010
25
Association of hearing loss with PHACE syndrome. (20713775)
2010
26
Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area. (20061274)
2010
27
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. (19858157)
2009
28
PHACE syndrome. (19508485)
2009
29
Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome-a case report. (19142902)
2009
30
Large destructive facial hemangioma in PHACE syndrome. (20376253)
2009
31
PHACE syndrome associated with congenital oculomotor nerve palsy. (19551563)
2009
32
Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome? (18620881)
2008
33
Intracranial infantile hemangiomas associated with PHACE syndrome. (17213418)
2007
34
PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. (17560503)
2007
35
PHACE syndrome: a new case. (16523557)
2006
36
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. (16575892)
2006
37
Case 103: PHACE syndrome. (17114635)
2006
38
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
39
A case of PHACE syndrome. (16197426)
2005
40
PHACE Syndrome: Persistent Fetal Vascular Anomalies. A Case Report. (20584448)
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

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Expression for genes affiliated with Phace Syndrome

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Search GEO for disease gene expression data for Phace Syndrome.

Pathways for genes affiliated with Phace Syndrome

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Compounds for genes affiliated with Phace Syndrome

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GO Terms for genes affiliated with Phace Syndrome

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Products for genes affiliated with Phace Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Phace Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet