Progressive non-infectious anterior vertebral fusion
ORPHA:2062Malformation syndromeNot applicableChildhood
Фенотипы (HPO)27
Очень частый (80–99%)18
HP:0000154Wide mouth
HP:0000233Thin vermilion border
HP:0000248Brachycephaly
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000925Abnormality of the vertebral column
HP:0001072Thickened skin
HP:0001176Large hands
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002937Hemivertebrae
HP:0005108Abnormal intervertebral disk morphology
HP:0005280Depressed nasal bridge
HP:0012368Flat face
Периодический (5–29%)9
HP:0000098Tall stature
HP:0001387Joint stiffness
HP:0001999Abnormal facial shape
HP:0002011Morphological central nervous system abnormality
HP:0002653Bone pain
HP:0003306Spinal rigidity
HP:0003363Abdominal situs inversus
HP:0005037Proximal radio-ulnar synostosis
HP:0100777Exostoses
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 67 | 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)