Spondyloepimetaphyseal dysplasia congenita, Strudwick type
ORPHA:93346DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)2
HP:0003015Flared metaphysis
HP:0045060Aplasia/hypoplasia involving bones of the extremities
Частый (30–79%)13
HP:0000162Glossoptosis
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000545Myopia
HP:0003026Short long bone
HP:0003173Hypoplastic pubic bone
HP:0003468Abnormal vertebral morphology
HP:0008462Cervical instability
HP:0010585Small epiphyses
HP:0012368Flat face
HP:0100569Abnormally ossified vertebrae
Периодический (5–29%)9
HP:0000670Carious teeth
HP:0000926Platyspondyly
HP:0001216Delayed ossification of carpal bones
HP:0002176Spinal cord compression
HP:0002795Abnormal respiratory system physiology
HP:0005193Restricted large joint movement
HP:0008755Laryngotracheomalacia
HP:0008800Limited hip movement
HP:0009800Maternal diabetes
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)