Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
ORPHA:228410Malformation syndromeAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)23
Очень частый (80–99%)4
HP:0001634Mitral valve prolapse
HP:0001654Abnormal heart valve morphology
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
Частый (30–79%)12
HP:0000218High palate
HP:0000268Dolichocephaly
HP:0000276Long face
HP:0000322Short philtrum
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000448Prominent nose
HP:0000508Ptosis
HP:0000678Dental crowding
HP:0001249Intellectual disability
Периодический (5–29%)7
HP:0000951Abnormality of the skin
HP:0001642Pulmonic stenosis
HP:0001650Aortic valve stenosis
HP:0001699Sudden death
HP:0005180Tricuspid regurgitation
HP:0011675Arrhythmia
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | 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)