Fibrochondrogenesis
ORPHA:2021DiseaseAutosomal dominant, Autosomal recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)29
Очень частый (80–99%)14
HP:0000260Wide anterior fontanel
HP:0000311Round face
HP:0000470Short neck
HP:0000520Proptosis
HP:0000772Abnormal rib morphology
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0000885Broad ribs
HP:0000940Abnormal diaphysis morphology
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001591Bell-shaped thorax
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
Частый (30–79%)10
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000364Hearing abnormality
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000882Hypoplastic scapulae
HP:0001804Hypoplastic fingernail
HP:0002093Respiratory insufficiency
HP:0005280Depressed nasal bridge
Периодический (5–29%)5
HP:0000316Hypertelorism
HP:0001357Plagiocephaly
HP:0001539Omphalocele
HP:0002983Micromelia
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)