PHACE syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AORTIC ANEURYSM, GIANT CONGENITAL
PHACES ASSOCIATION
Pascual-Castroviejo syndrome type 2
Number of Symptoms 59
OrphanetNr: 42775
OMIM Id: 606519
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Genetic neurovascular malformation
 -Rare genetic disease
Genetic syndrome with a cerebellar malformation as major feature
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Neurovascular malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Palpebral tumor with a vascular malformation
 -Rare eye disease
 -Rare genetic disease
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with a cerebellar malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Vascular tumor
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001305) Dandy-Walker malformation Frequent [Orphanet] 79 / 7739
2
 (HPO:0000528) Anophthalmia 42 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
5
 (HPO:0007434) Plaque-like facial hemangioma 1 / 7739
6
 (HPO:0000329) Facial hemangioma 5 / 7739
7
 (HPO:0011478) True anophthalmia 17 / 7739
8
 (HPO:0000647) Sclerocornea Occasional [Orphanet] 25 / 7739
9
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
10
 (HPO:0007986) Increased retinal vascularity 1 / 7739
11
 (HPO:0100719) Lens coloboma Occasional [Orphanet] 4 / 7739
12
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
13
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
14
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
15
 (HPO:0002277) Horner syndrome 7 / 7739
16
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
17
 (HPO:0000519) Congenital cataract 73 / 7739
18
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
19
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
20
 (HPO:0000648) Optic atrophy 238 / 7739
21
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
22
 (HPO:0001263) Global developmental delay 853 / 7739
23
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
24
 (HPO:0002076) Migraine 41 / 7739
25
 (HPO:0000851) Congenital hypothyroidism 16 / 7739
26
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
27
 (HPO:0005990) Thyroid hypoplasia Occasional [Orphanet] 21 / 7739
28
 (HPO:0100029) Lingual thyroid 1 / 7739
29
 (HPO:0000766) Abnormality of the sternum Occasional [Orphanet] 31 / 7739
30
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
31
 (HPO:0100761) Visceral angiomatosis Occasional [Orphanet] 21 / 7739
32
 (HPO:0007486) Cavernous hemangioma of the face 2 / 7739
33
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
34
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
35
 (HPO:0004942) Aortic aneurysm 10 / 7739
36
 (HPO:0001680) Coarctation of aorta 57 / 7739
37
 (HPO:0001629) Ventricular septal defect 316 / 7739
38
 (HPO:0005344) Abnormality of the carotid arteries Occasional [Orphanet] 6 / 7739
39
 (HPO:0100545) Arterial stenosis 22 / 7739
40
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
41
 (HPO:0005314) Anomalous branches of internal carotid artery 1 / 7739
42
 (HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
43
 (HPO:0002617) Aneurysm 34 / 7739
44
 (HPO:0001724) Aortic dilatation 24 / 7739
45
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
46
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
47
 (OMIM) Sternal clefting 1 / 7739
48
 (MedDRA:10063900) Steal syndrome 1 / 7739
49
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
50
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
51
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
52
 (OMIM) Moya-moya phenomenon 1 / 7739
53
 (OMIM) Supraumbilical abdominal raphe 1 / 7739
54
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
55
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
56
 (OMIM) Subglottic hemangioma 1 / 7739
57
 (OMIM) Sternal pits 1 / 7739
58
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
59
 (OMIM) Cerebral infarction Dandy-Walker Malformation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ...
Diagnosis OMIM In a consensus statement regarding diagnostic criteria for PHACE syndrome (Metry et al., 2009), the criteria were stratified into 2 categories, PHACE syndrome and possible PHACE syndrome. Definite PHACE syndrome requires the presence of a characteristic segmental hemangioma ...
Clinical Description OMIM Frieden et al. (1996) reported 2 cases of infants with large facial hemangiomas, congenital cataracts, and structural arterial anomalies, particularly of the central nervous system. They also reviewed 41 cases with similar findings from the literature, and proposed ...