Isolated Pierre Robin sequence
ORPHA:718Malformation syndromeAutosomal dominant, Multigenic/multifactorial, Not applicable, UnknownAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)3
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000347Micrognathia
Частый (30–79%)6
HP:0001508Failure to thrive
HP:0001561Polyhydramnios
HP:0002643Neonatal respiratory distress
HP:0002781Upper airway obstruction
HP:0008872Feeding difficulties in infancy
HP:0012418Hypoxemia
Периодический (5–29%)12
HP:0000453Choanal atresia
HP:0000961Cyanosis
HP:0001601Laryngomalacia
HP:0001607Subglottic stenosis
HP:0001648Cor pulmonale
HP:0002015Dysphagia
HP:0002777Tracheal stenosis
HP:0002779Tracheomalacia
HP:0002780Bronchomalacia
HP:0004890Elevated pulmonary artery pressure
HP:0010307Stridor
HP:0010535Sleep apnea
Эпидемиология15
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | United Kingdom | Class only |
| Prevalence at birth | 1-9 / 100 000 | 8 | France | Value and class |
| Point prevalence | 1-9 / 100 000 | — | France | Class only |
| Prevalence at birth | 1-5 / 10 000 | 12.4 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.5 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Denmark | Class only |
| Prevalence at birth | 1-9 / 100 000 | 4.5 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Sweden | Class only |
| Prevalence at birth | 1-9 / 100 000 | 5.9 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.9 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | — | United States | Class only |
| Prevalence at birth | 1-9 / 100 000 | 5 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 6.4 | Netherlands | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18.8 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)