Sirenomelia
ORPHA:3169Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)10
Очень частый (80–99%)6
HP:0000062Ambiguous genitalia
HP:0000079Abnormality of the urinary system
HP:0002023Anal atresia
HP:0008678Renal hypoplasia/aplasia
HP:0010305Absence of the sacrum
HP:0010497Sirenomelia
Частый (30–79%)4
HP:0001626Abnormality of the cardiovascular system
HP:0002414Spina bifida
HP:0002575Tracheoesophageal fistula
HP:0006501Aplasia/Hypoplasia of the radius
Эпидемиология19
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.98 | Worldwide | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.01 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.71 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.009 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.04 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.64 | Spain | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.54 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Finland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.31 | Slovakia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.33 | Hungary | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.74 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Canada | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.83 | China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.79 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.36 | Mexico | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.36 | Latin America | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12 | Colombia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.98 | Brazil | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)