Brain malformation-congenital heart disease-postaxial polydactyly syndrome
ORPHA:75389Malformation syndromeUnknownInfancy, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)13
HP:0000232Everted lower lip vermilion
HP:0000343Long philtrum
HP:0000377Abnormal pinna morphology
HP:0000463Anteverted nares
HP:0000582Upslanted palpebral fissure
HP:0001162Postaxial hand polydactyly
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0008404Nail dystrophy
HP:0011344Severe global developmental delay
Частый (30–79%)9
HP:0000089Renal hypoplasia
HP:0001321Cerebellar hypoplasia
HP:0001596Alopecia
HP:0001631Atrial septal defect
HP:0002208Coarse hair
HP:0002299Brittle hair
HP:0004415Pulmonary artery stenosis
HP:0006610Wide intermamillary distance
HP:0006817Aplasia/Hypoplasia of the cerebellar vermis
Периодический (5–29%)2
HP:0011747Abnormality of the anterior pituitary
HP:0011757Posterior pituitary hypoplasia
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)