PHACE syndrome
Synonyms: PHACES syndrome · Pascual-Castroviejo syndrome type 2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare infantile hemangioma characterized by the association of anomalies of Posterior fossa brain malformations, segmental infantile large facial or neck Hemangiomas, Arterial anomalies (usually of the head and neck or the arteries supplying the brain), aortic coarctation and other Cardiac anomalies, and Eye abnormalities (acronym PHACE). Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PHACE syndrome | PHACES syndrome · Pascual-Castroviejo syndrome type 2 |
| fr | Syndrome PHACE | Syndrome PHACES · Syndrome de Pascual-Castroviejo type 2 |
| de | PHACE-Syndrom | PHACES-Syndrom · Pascual-Castroviejo-Syndrom Typ 2 |
| es | Síndrome PHACE | Síndrome de Pascual-Castroviejo tipo 2 |
| it | Sindrome PHACE | Sindrome di Pascual-Castroviejo, tipo 2 |
| nl | PHACE-syndroom | PHACES-syndroom · Syndroom van Pascual-Castroviejo type 2 |
| pt | Síndrome PHACE | Síndrome PHACES · Síndrome Pascual-Castroviejo tipo 2 |
| pl | Zespół PHACE | Zespół Pascuala i Castroviejo typu 2 |
| cs | PHACE syndrom | Pascual-Castroviejův syndrom, typ 2 |
| uk | Синдром PHACE | Синдром Паскуаля-Кастровєхо, тип 2 · Синдром PHACES |
| zh | PHACE综合征 | Pascual-Castroviejo 综合征2型 |
| tr | PHACE sendromu | PHACES sendromu · Pascual-Castroviejo sendromu tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606519 | BTNT | validated | |
| ICD-10 | Q28.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011676 | E | validated | |
| UMLS | C3698479 | E | validated | |
| GARD | 8338 | E | validated | |
| MedDRA | 10068032 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (10):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:102006Neurovascular malformation
rare neurological diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:459543Rare genetic vascular tumor
rare genetic diseases - ORPHA:210589Rare infantile hemangioma
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1564Dandy-Walker malformation-facial hemangioma syndrome moved to · inactive
- ORPHA:2124Cavernous hemangiomas of face-supraumbilical midline raphe syndrome moved to · inactive
- ORPHA:3195Sternal malformation-vascular dysplasia syndrome moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 26564079[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26564079[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009145 | Abnormal cerebral artery morphology | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0002408 | Cerebral arteriovenous malformation | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000501 | Glaucoma | |
| HP:0000568 | Microphthalmia | |
| HP:0000609 | Optic nerve hypoplasia | |
| Occasional (29-5%) | ||
| HP:0000766 | Abnormal sternum morphology | |
| HP:0005344 | Abnormality of the carotid arteries | |
| HP:0000315 | Abnormality of the orbital region | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000646 | Amblyopia | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0005306 | Capillary hemangioma | |
| HP:0000518 | Cataract | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001680 | Coarctation of aorta | |
| HP:0100028 | Ectopic thyroid | |
| HP:0001263 | Global developmental delay | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001100 | Heterochromia iridis | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0000612 | Iris coloboma | |
| HP:0100719 | Lens coloboma | |
| HP:0000252 | Microcephaly | |
| HP:0000508 | Ptosis | |
| HP:0007797 | Retinal vascular malformation | |
| HP:0000647 | Sclerocornea | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0100761 | Visceral angiomatosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26469095[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/42775
- This record as JSON: /data/d/42775.json