Otofaciocervical syndrome
ORPHA:2792Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)23
Очень частый (80–99%)18
HP:0000218High palate
HP:0000293Full cheeks
HP:0000400Macrotia
HP:0000405Conductive hearing impairment
HP:0000411Protruding ear
HP:0000463Anteverted nares
HP:0000889Abnormality of the clavicle
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001347Hyperreflexia
HP:0002167Abnormality of speech or vocalization
HP:0003691Scapular winging
HP:0004322Short stature
HP:0004467Preauricular pit
HP:0005280Depressed nasal bridge
HP:0007477Abnormal dermatoglyphics
HP:0200021Down-sloping shoulders
Частый (30–79%)2
HP:0002750Delayed skeletal maturation
HP:0009738Abnormality of the antihelix
Периодический (5–29%)3
HP:0000324Facial asymmetry
HP:0000413Atresia of the external auditory canal
HP:0008678Renal hypoplasia/aplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)