PHACE syndrome
ORPHA:42775Malformation syndromeUnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)34
Очень частый (80–99%)1
HP:0009145Abnormal cerebral artery morphology
Частый (30–79%)7
HP:0000501Glaucoma
HP:0000568Microphthalmia
HP:0000609Optic nerve hypoplasia
HP:0001305Dandy-Walker malformation
HP:0001627Abnormal heart morphology
HP:0001671Abnormal cardiac septum morphology
HP:0002408Cerebral arteriovenous malformation
Периодический (5–29%)26
HP:0000252Microcephaly
HP:0000315Abnormality of the orbital region
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000518Cataract
HP:0000612Iris coloboma
HP:0000646Amblyopia
HP:0000647Sclerocornea
HP:0000766Abnormal sternum morphology
HP:0000821Hypothyroidism
HP:0001100Heterochromia iridis
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001321Cerebellar hypoplasia
HP:0001636Tetralogy of Fallot
HP:0001680Coarctation of aorta
HP:0002616Aortic root aneurysm
HP:0004374Hemiplegia/hemiparesis
HP:0005306Capillary hemangioma
HP:0005344Abnormality of the carotid arteries
HP:0007797Retinal vascular malformation
HP:0100028Ectopic thyroid
HP:0100719Lens coloboma
HP:0100761Visceral angiomatosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)