Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
ORPHA:77300Malformation syndromeUnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)22
Очень частый (80–99%)2
HP:0000202Orofacial cleft
HP:0011340Incomplete cleft of the upper lip
Частый (30–79%)20
HP:0002002Deep philtrum
HP:0002566Intestinal malrotation
HP:0002808Kyphosis
HP:0007894Hypopigmentation of the fundus
HP:0010880Increased nuchal translucency
HP:0100277Periauricular skin pits
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0000545Myopia
HP:0000572Visual loss
HP:0000587Abnormal optic nerve morphology
HP:0000639Nystagmus
HP:0000767Pectus excavatum
HP:0000891Cervical ribs
HP:0001357Plagiocephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)