Weismann-Netter syndrome
ORPHA:3344Malformation syndromeNeonatal
Фенотипы (HPO)20
Очень частый (80–99%)7
HP:0002982Tibial bowing
HP:0002991Abnormal fibula morphology
HP:0002992Abnormality of tibia morphology
HP:0003103Abnormal cortical bone morphology
HP:0003510Severe short stature
HP:0006487Bowing of the long bones
HP:0010502Fibular bowing
Частый (30–79%)8
HP:0001249Intellectual disability
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002823Abnormality of femur morphology
HP:0002980Femoral bowing
HP:0003177Squared iliac bones
HP:0003272Abnormality of the hip bone
HP:0003312Abnormal form of the vertebral bodies
Периодический (5–29%)5
HP:0000820Abnormality of the thyroid gland
HP:0001903Anemia
HP:0006501Aplasia/Hypoplasia of the radius
HP:0040071Abnormal morphology of ulna
HP:0031095Abnormal humerus morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)