Kagami-Ogata syndrome
ORPHA:254519Malformation syndromeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)40
Очень частый (80–99%)21
HP:0000289Broad philtrum
HP:0000293Full cheeks
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0000465Webbed neck
HP:0000470Short neck
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001376Limitation of joint mobility
HP:0001561Polyhydramnios
HP:0001591Bell-shaped thorax
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002421Poor head control
HP:0004887Respiratory failure requiring assisted ventilation
HP:0005257Thoracic hypoplasia
HP:0005280Depressed nasal bridge
HP:0006267Large placenta
HP:0006665Coat hanger sign of ribs
HP:0011968Feeding difficulties
HP:0025336Delayed ability to sit
Частый (30–79%)12
HP:0000205Pursed lips
HP:0000581Blepharophimosis
HP:0001520Large for gestational age
HP:0001539Omphalocele
HP:0001540Diastasis recti
HP:0001601Laryngomalacia
HP:0001622Premature birth
HP:0002007Frontal bossing
HP:0002019Constipation
HP:0002673Coxa valga
HP:0002751Kyphoscoliosis
HP:0011335Frontal hirsutism
Периодический (5–29%)6
HP:0000023Inguinal hernia
HP:0001548Overgrowth
HP:0001626Abnormality of the cardiovascular system
HP:0002884Hepatoblastoma
HP:0008551Microtia
HP:0008897Postnatal growth retardation
Очень редкий (1–4%)1
HP:0001250Seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 84 | 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)