Cerebrooculonasal syndrome
ORPHA:66625Malformation syndromeAutosomal dominantAntenatal, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)10
HP:0000248Brachycephaly
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000528Anophthalmia
HP:0000582Upslanted palpebral fissure
HP:0000618Blindness
HP:0005288Abnormality of the nares
HP:0009891Underdeveloped supraorbital ridges
HP:0011220Prominent forehead
HP:0100729Large face
Частый (30–79%)16
HP:0000358Posteriorly rotated ears
HP:0000218High palate
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000653Sparse eyelashes
HP:0000687Widely spaced teeth
HP:0000691Microdontia
HP:0001162Postaxial hand polydactyly
HP:0001249Intellectual disability
HP:0002006Facial cleft
HP:0006315Single median maxillary incisor
HP:0008736Hypoplasia of penis
HP:0009912Abnormal tragus morphology
HP:0012639Abnormal nervous system morphology
HP:0045075Sparse eyebrow
Периодический (5–29%)1
HP:0010806U-Shaped upper lip vermilion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 21 | 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)