Otodental syndrome
ORPHA:2791Malformation syndromeAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)5
HP:0000408Progressive sensorineural hearing impairment
HP:0000670Carious teeth
HP:0006479Abnormality of the dental pulp
HP:0011070Abnormality of molar morphology
HP:0011078Abnormality of canine
Частый (30–79%)13
HP:0000212Gingival overgrowth
HP:0000276Long face
HP:0000293Full cheeks
HP:0000326Abnormality of the maxilla
HP:0000343Long philtrum
HP:0000463Anteverted nares
HP:0000679Taurodontia
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000704Periodontitis
HP:0001757High-frequency sensorineural hearing impairment
HP:0003771Pulp calcification
HP:0011051Agenesis of premolar
Периодический (5–29%)8
HP:0000480Retinal coloboma
HP:0000482Microcornea
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0011068Odontoma
HP:0031353Otitis media with effusion
HP:0100719Lens coloboma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)