Oculoauriculovertebral spectrum with radial defects
ORPHA:2549Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)7
HP:0000324Facial asymmetry
HP:0000359Abnormality of the inner ear
HP:0003778Short mandibular rami
HP:0006511Laryngeal stridor
HP:0008551Microtia
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)13
HP:0000076Vesicoureteral reflux
HP:0000202Orofacial cleft
HP:0000384Preauricular skin tag
HP:0000407Sensorineural hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0003458EMG: myopathic abnormalities
HP:0004322Short stature
HP:0004452Abnormality of the middle ear ossicles
HP:0004467Preauricular pit
HP:0006695Atrioventricular canal defect
HP:0008678Renal hypoplasia/aplasia
HP:0008706Distal urethral duplication
HP:0100543Cognitive impairment
Периодический (5–29%)11
HP:0000078Abnormality of the genital system
HP:0000154Wide mouth
HP:0000175Cleft palate
HP:0000405Conductive hearing impairment
HP:0001177Preaxial hand polydactyly
HP:0001199Triphalangeal thumb
HP:0004397Ectopic anus
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0009800Maternal diabetes
HP:0100335Non-midline cleft of the upper lip
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)