CODAS syndrome
ORPHA:1458Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)20
HP:0000286Epicanthus
HP:0000396Overfolded helix
HP:0000463Anteverted nares
HP:0000518Cataract
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0001156Brachydactyly
HP:0001263Global developmental delay
HP:0002750Delayed skeletal maturation
HP:0003196Short nose
HP:0003312Abnormal form of the vertebral bodies
HP:0003417Coronal cleft vertebrae
HP:0004122Midline defect of the nose
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0005930Abnormality of epiphysis morphology
HP:0006482Abnormal dental morphology
HP:0009901Crumpled ear
HP:0010049Short metacarpal
HP:0012368Flat face
Частый (30–79%)7
HP:0000407Sensorineural hearing impairment
HP:0000508Ptosis
HP:0001252Hypotonia
HP:0001374Congenital hip dislocation
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002650Scoliosis
HP:0001382Joint hypermobility
Периодический (5–29%)6
HP:0000072Hydroureter
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0001600Abnormality of the larynx
HP:0001629Ventricular septal defect
HP:0005242Extrahepatic biliary duct atresia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 26 | 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)