Spondylo-ocular syndrome
ORPHA:85194Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)11
HP:0000316Hypertelorism
HP:0000470Short neck
HP:0000534Abnormal eyebrow morphology
HP:0000541Retinal detachment
HP:0000572Visual loss
HP:0000926Platyspondyly
HP:0000939Osteoporosis
HP:0002942Thoracic kyphosis
HP:0003521Disproportionate short-trunk short stature
HP:0005108Abnormal intervertebral disk morphology
HP:0007730Iris hypopigmentation
Частый (30–79%)6
HP:0000297Facial hypotonia
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0001629Ventricular septal defect
HP:0001763Pes planus
HP:0008063Aplasia/Hypoplasia of the lens
Периодический (5–29%)14
HP:0000233Thin vermilion border
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000391Thickened helices
HP:0000465Webbed neck
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000974Hyperextensible skin
HP:0001249Intellectual disability
HP:0002162Low posterior hairline
HP:0004322Short stature
HP:0004467Preauricular pit
HP:0009738Abnormality of the antihelix
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)