Branchio-oculo-facial syndrome
ORPHA:1297Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)11
HP:0000358Posteriorly rotated ears
HP:0000232Everted lower lip vermilion
HP:0000377Abnormal pinna morphology
HP:0000405Conductive hearing impairment
HP:0000589Coloboma
HP:0000987Atypical scarring of skin
HP:0001028Hemangioma
HP:0002002Deep philtrum
HP:0004464Postauricular pit
HP:0004467Preauricular pit
HP:0008606Supraauricular pit
Частый (30–79%)16
HP:0000218High palate
HP:0000268Dolichocephaly
HP:0000431Wide nasal bridge
HP:0000455Broad nasal tip
HP:0000579Nasolacrimal duct obstruction
HP:0000582Upslanted palpebral fissure
HP:0000612Iris coloboma
HP:0000691Microdontia
HP:0001511Intrauterine growth retardation
HP:0001611Hypernasal speech
HP:0002167Abnormality of speech or vocalization
HP:0002216Premature graying of hair
HP:0004322Short stature
HP:0009804Tooth agenesis
HP:0100335Non-midline cleft of the upper lip
HP:0100798Fingernail dysplasia
Периодический (5–29%)10
HP:0000003Multicystic kidney dysplasia
HP:0000104Renal agenesis
HP:0000126Hydronephrosis
HP:0000202Orofacial cleft
HP:0000482Microcornea
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000518Cataract
HP:0001177Preaxial hand polydactyly
HP:0100268Upper lip pit
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | 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)