Metaphyseal chondrodysplasia, Jansen type
ORPHA:33067DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Частый (30–79%)14
HP:0000218High palate
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000938Osteopenia
HP:0002148Hypophosphatemia
HP:0002150Hypercalciuria
HP:0002515Waddling gait
HP:0002694Sclerosis of skull base
HP:0002753Thin bony cortex
HP:0003072Hypercalcemia
HP:0003080Hydroxyprolinuria
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0006487Bowing of the long bones
HP:0008873Disproportionate short-limb short stature
Периодический (5–29%)10
HP:0000121Nephrocalcinosis
HP:0000293Full cheeks
HP:0000494Downslanted palpebral fissures
HP:0000520Proptosis
HP:0000883Thin ribs
HP:0002643Neonatal respiratory distress
HP:0008872Feeding difficulties in infancy
HP:0010537Wide cranial sutures
HP:0034392Joint contracture
HP:0200138Bilateral choanal atresia/stenosis
Исключён (0%)1
HP:0003165Elevated circulating parathyroid hormone level
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)