Radio-renal syndrome
ORPHA:3015Malformation syndromeNeonatal
Фенотипы (HPO)24
Очень частый (80–99%)24
HP:0000003Multicystic kidney dysplasia
HP:0000104Renal agenesis
HP:0000110Renal dysplasia
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000444Convex nasal ridge
HP:0000470Short neck
HP:0000772Abnormal rib morphology
HP:0001156Brachydactyly
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002202Pleural effusion
HP:0002705High, narrow palate
HP:0002714Downturned corners of mouth
HP:0002878Respiratory failure
HP:0002983Micromelia
HP:0002984Hypoplasia of the radius
HP:0003312Abnormal form of the vertebral bodies
HP:0003510Severe short stature
HP:0004279Short palm
HP:0005280Depressed nasal bridge
HP:0008678Renal hypoplasia/aplasia
HP:0009811Abnormality of the elbow
HP:0010310Chylothorax
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)