Fallot complex-intellectual disability-growth delay syndrome
ORPHA:3304Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)33
Очень частый (80–99%)3
HP:0000411Protruding ear
HP:0001525Severe failure to thrive
HP:0002187Intellectual disability, profound
Частый (30–79%)14
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000494Downslanted palpebral fissures
HP:0000954Single transverse palmar crease
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001642Pulmonic stenosis
HP:0001719Double outlet right ventricle
HP:00046912-3 toe syndactyly
HP:0011335Frontal hirsutism
HP:0011344Severe global developmental delay
Периодический (5–29%)16
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000403Recurrent otitis media
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000961Cyanosis
HP:0001276Hypertonia
HP:0001643Patent ductus arteriosus
HP:0002179Opisthotonus
HP:0002623Overriding aorta
HP:0005278Hypoplastic nasal tip
HP:0005301Persistent left superior vena cava
HP:0007687Unilateral ptosis
HP:0100759Clubbing of fingers
HP:0100760Clubbing of toes
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)