Spondyloperipheral dysplasia-short ulna syndrome
ORPHA:1856DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)23
Частый (30–79%)12
HP:0000175Cleft palate
HP:0000365Hearing impairment
HP:0000545Myopia
HP:0001384Abnormality of the hip joint
HP:0003022Hypoplasia of the ulna
HP:0003071Flattened epiphysis
HP:0003498Disproportionate short stature
HP:0005106Abnormality of the vertebral endplates
HP:0005863Type E brachydactyly
HP:0008788Delayed pubic bone ossification
HP:0010582Irregular epiphyses
HP:0045060Aplasia/hypoplasia involving bones of the extremities
Периодический (5–29%)11
HP:0000518Cataract
HP:0000541Retinal detachment
HP:0000926Platyspondyly
HP:0001377Limited elbow extension
HP:0001385Hip dysplasia
HP:0001883Talipes
HP:0003300Ovoid vertebral bodies
HP:0003365Arthralgia of the hip
HP:0008812Flattened femoral head
HP:0010055Broad hallux
HP:0010743Short metatarsal
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 10 | Worldwide | Family(ies) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)