Oculo-auriculo-vertebral spectrum
ORPHA:141132Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)3
HP:0000384Preauricular skin tag
HP:0001140Limbal dermoid
HP:0011332Hemifacial hypoplasia
Частый (30–79%)12
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000750Delayed speech and language development
HP:0002414Spina bifida
HP:0002650Scoliosis
HP:0002937Hemivertebrae
HP:0008551Microtia
HP:0009117Aplasia/Hypoplasia of the maxilla
HP:0009118Aplasia/Hypoplasia of the mandible
HP:0012210Abnormal renal morphology
HP:0012758Neurodevelopmental delay
Периодический (5–29%)14
HP:0033792Cross bite
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000568Microphthalmia
HP:0000589Coloboma
HP:0000678Dental crowding
HP:0001511Intrauterine growth retardation
HP:0001561Polyhydramnios
HP:0001627Abnormal heart morphology
HP:0002308Chiari malformation
HP:0002781Upper airway obstruction
HP:0002870Obstructive sleep apnea
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0009892Anotia
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 4 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.7 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)