Atelosteogenesis type III
ORPHA:56305Malformation syndromeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Частый (30–79%)11
HP:0031095Abnormal humerus morphology
HP:0001248Short tubular bones of the hand
HP:0001762Talipes equinovarus
HP:0002093Respiratory insufficiency
HP:0002827Hip dislocation
HP:0002999Patellar dislocation
HP:0003042Elbow dislocation
HP:0003417Coronal cleft vertebrae
HP:0004976Knee dislocation
HP:0006408Distal tapering femur
HP:0008417Vertebral hypoplasia
Периодический (5–29%)16
HP:0000218High palate
HP:0000347Micrognathia
HP:0001188Hand clenching
HP:0001263Global developmental delay
HP:0001561Polyhydramnios
HP:0002990Fibular aplasia
HP:0003049Ulnar deviation of the wrist
HP:0003862Absent humerus
HP:0003902Epiphyseal stippling of the humerus
HP:0003974Absent radius
HP:0005257Thoracic hypoplasia
HP:0005619Thoracolumbar kyphosis
HP:0005736Short tibia
HP:0005905Abnormal cervical curvature
HP:0006384Club-shaped distal femur
HP:0008755Laryngotracheomalacia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)