Boomerang dysplasia
ORPHA:1263DiseaseNot applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)9
HP:0000774Narrow chest
HP:0000824Decreased response to growth hormone stimulation test
HP:0002983Micromelia
HP:0002992Abnormality of tibia morphology
HP:0006492Aplasia/Hypoplasia of the fibula
HP:0008890Severe short-limb dwarfism
HP:0011849Abnormal bone ossification
HP:0100569Abnormally ossified vertebrae
HP:0100856Poorly ossified vertebrae
Частый (30–79%)11
HP:0031095Abnormal humerus morphology
HP:0000028Cryptorchidism
HP:0001539Omphalocele
HP:0001561Polyhydramnios
HP:0001789Hydrops fetalis
HP:0002818Abnormal morphology of the radius
HP:0002823Abnormality of femur morphology
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
Периодический (5–29%)1
HP:0040071Abnormal morphology of ulna
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)