Grant syndrome
ORPHA:2097Malformation syndromeUnknownNeonatal
Фенотипы (HPO)25
Очень частый (80–99%)10
HP:0000239Large fontanelles
HP:0000347Micrognathia
HP:0000592Blue sclerae
HP:0001373Joint dislocation
HP:0002007Frontal bossing
HP:0002645Wormian bones
HP:0003103Abnormal cortical bone morphology
HP:0004331Decreased skull ossification
HP:0006487Bowing of the long bones
HP:0001382Joint hypermobility
Частый (30–79%)15
HP:0000174Abnormal palate morphology
HP:0000248Brachycephaly
HP:0000324Facial asymmetry
HP:0000772Abnormal rib morphology
HP:0000774Narrow chest
HP:0000912Sprengel anomaly
HP:0001024Skin dimple over apex of long bone angulation
HP:0001252Hypotonia
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0010807Open bite
HP:0011912Abnormality of the glenoid fossa
HP:0012368Flat face
HP:0100729Large face
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Family(ies) |
| 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)