Chondroectodermal dysplasia with night blindness
ORPHA:319195DiseaseInfancy, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)26
HP:0000347Micrognathia
HP:0000388Otitis media
HP:0000926Platyspondyly
HP:0002750Delayed skeletal maturation
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0100255Metaphyseal dysplasia
HP:0000975Hyperhidrosis
HP:0001288Gait disturbance
HP:0009926Epiphora
HP:0004322Short stature
HP:0001595Abnormality of the hair
HP:0001812Hyperconvex fingernails
HP:0002656Epiphyseal dysplasia
HP:0002815Abnormality of the knee
HP:0003025Metaphyseal irregularity
HP:0003045Abnormal patella morphology
HP:0003084Fractures of the long bones
HP:0003886Wide humerus
HP:0006482Abnormal dental morphology
HP:0007642Congenital stationary night blindness
HP:0008110Equinovarus deformity
HP:0008124Talipes calcaneovarus
HP:0008404Nail dystrophy
HP:0008394Congenital onychodystrophy
HP:0030055Hyperconvex toenail
Периодический (5–29%)1
HP:0012542Onychauxis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)