Conductive deafness-ptosis-skeletal anomalies syndrome
ORPHA:3236Malformation syndromeNo data available
Фенотипы (HPO)16
Очень частый (80–99%)13
HP:0000286Epicanthus
HP:0000405Conductive hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000446Narrow nasal bridge
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0000682Abnormality of dental enamel
HP:0002213Fine hair
HP:0003042Elbow dislocation
HP:0003272Abnormality of the hip bone
HP:0004209Clinodactyly of the 5th finger
HP:0007477Abnormal dermatoglyphics
HP:0008773Aplasia/Hypoplasia of the middle ear
Частый (30–79%)3
HP:0000174Abnormal palate morphology
HP:0000545Myopia
HP:0007598Bilateral single transverse palmar creases
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)