Baraitser-Winter cerebrofrontofacial syndrome
ORPHA:2995Malformation syndromeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)62
Очень частый (80–99%)38
HP:0010529Echolalia
HP:0000154Wide mouth
HP:0000233Thin vermilion border
HP:0000278Retrognathia
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000307Pointed chin
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000437Depressed nasal tip
HP:0000445Wide nose
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000612Iris coloboma
HP:0000637Long palpebral fissure
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001302Pachygyria
HP:0001328Specific learning disability
HP:0001339Lissencephaly
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002000Short columella
HP:0002126Polymicrogyria
HP:0002300Mutism
HP:0002381Aphasia
HP:0002553Highly arched eyebrow
HP:0002652Skeletal dysplasia
HP:0005487Prominent metopic ridge
HP:0011968Feeding difficulties
HP:0012905Euryblepharon
HP:0040188Osteochondrosis
HP:0001302Pachygyria
Частый (30–79%)17
HP:0000072Hydroureter
HP:0000126Hydronephrosis
HP:0000239Large fontanelles
HP:0000243Trigonocephaly
HP:0000252Microcephaly
HP:0000270Delayed cranial suture closure
HP:0000448Prominent nose
HP:0000470Short neck
HP:0001100Heterochromia iridis
HP:0001387Joint stiffness
HP:0002120Cerebral cortical atrophy
HP:0002162Low posterior hairline
HP:0003189Long nose
HP:0010935Abnormality of the upper urinary tract
HP:0012157Subcortical cerebral atrophy
HP:0030502Retinoschisis
HP:0100308Cerebral cortical hemiatrophy
Периодический (5–29%)7
HP:0000465Webbed neck
HP:0000482Microcornea
HP:0000588Optic disc coloboma
HP:0002326Transient ischemic attack
HP:0002650Scoliosis
HP:0009942Duplication of thumb phalanx
HP:0100540Palpebral edema
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | 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)