FGFR2-related bent bone dysplasia
ORPHA:313855DiseaseAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)24
HP:0000212Gingival overgrowth
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000356Abnormality of the outer ear
HP:0000369Low-set ears
HP:0000485Megalocornea
HP:0000695Natal tooth
HP:0000894Short clavicles
HP:0000938Osteopenia
HP:0001007Hirsutism
HP:0001156Brachydactyly
HP:0001591Bell-shaped thorax
HP:0001978Extramedullary hematopoiesis
HP:0003175Hypoplastic ischia
HP:0004440Coronal craniosynostosis
HP:0004453Overfolding of the superior helices
HP:0005474Decreased calvarial ossification
HP:0007642Congenital stationary night blindness
HP:0008665Clitoral hypertrophy
HP:0010455Steep acetabular roof
HP:0011223Metopic depression
HP:0011800Midface retrusion
HP:0030042Incomplete ossification of pubis
HP:0030313Abnormal periosteum morphology
Периодический (5–29%)3
HP:0001433Hepatosplenomegaly
HP:0002814Abnormality of the lower limb
HP:0002979Bowing of the legs
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)