Braddock syndrome
ORPHA:52047Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)24
Очень частый (80–99%)10
HP:0000358Posteriorly rotated ears
HP:0000396Overfolded helix
HP:0000592Blue sclerae
HP:0000767Pectus excavatum
HP:0000921Missing ribs
HP:0001511Intrauterine growth retardation
HP:0002092Pulmonary arterial hypertension
HP:0002206Pulmonary fibrosis
HP:0002937Hemivertebrae
HP:0005950Laryngeal web
Частый (30–79%)14
HP:0000122Unilateral renal agenesis
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000581Blepharophimosis
HP:0000601Hypotelorism
HP:0001177Preaxial hand polydactyly
HP:0001508Failure to thrive
HP:0002643Neonatal respiratory distress
HP:0002650Scoliosis
HP:0004322Short stature
HP:0005988Congenital muscular torticollis
HP:0006610Wide intermamillary distance
HP:0010720Abnormal hair pattern
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)