Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
ORPHA:85167DiseaseAutosomal recessiveNo data available
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)20
HP:0000505Visual impairment
HP:0000548Cone/cone-rod dystrophy
HP:0000926Platyspondyly
HP:0001156Brachydactyly
HP:0002812Coxa vara
HP:0002979Bowing of the legs
HP:0003015Flared metaphysis
HP:0003025Metaphyseal irregularity
HP:0003026Short long bone
HP:0003300Ovoid vertebral bodies
HP:0003510Severe short stature
HP:0005054Metaphyseal spurs
HP:0005930Abnormality of epiphysis morphology
HP:0006487Bowing of the long bones
HP:0007703Abnormality of retinal pigmentation
HP:0008905Rhizomelia
HP:0009803Short phalanx of finger
HP:0010049Short metacarpal
HP:0010583Ivory epiphyses
HP:0030329Retinal thinning
Частый (30–79%)5
HP:0000539Abnormality of refraction
HP:0000887Cupped ribs
HP:0000946Hypoplastic ilia
HP:0003375Narrow greater sciatic notch
HP:0031171Femoral spur
Периодический (5–29%)13
HP:0000486Strabismus
HP:0000568Microphthalmia
HP:0000589Coloboma
HP:0000602Ophthalmoplegia
HP:0000639Nystagmus
HP:0001105Retinal atrophy
HP:0001132Lens subluxation
HP:0002650Scoliosis
HP:0007401Macular atrophy
HP:0007688Undetectable light- and dark-adapted electroretinogram
HP:0007957Corneal opacity
HP:0009918Ectopia pupillae
HP:0012153Hypotriglyceridemia
Исключён (0%)1
HP:0001249Intellectual disability
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)