Char syndrome
ORPHA:46627Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)11
HP:0000207Triangular mouth
HP:0000232Everted lower lip vermilion
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000457Depressed nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0001643Patent ductus arteriosus
HP:0005280Depressed nasal bridge
HP:0012471Thick vermilion border
Частый (30–79%)3
HP:0004209Clinodactyly of the 5th finger
HP:0004220Short middle phalanx of the 5th finger
HP:0006159Mesoaxial hand polydactyly
Периодический (5–29%)14
HP:0006349Agenesis of permanent teeth
HP:0000269Prominent occiput
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000545Myopia
HP:0001161Hand polydactyly
HP:0001263Global developmental delay
HP:0001629Ventricular septal defect
HP:0001770Toe syndactyly
HP:0002360Sleep abnormality
HP:0002558Supernumerary nipple
HP:0004218Symphalangism of the 5th finger
HP:0006335Persistence of primary teeth
HP:0010112Mesoaxial foot polydactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 109 | 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)