Frontofacionasal dysplasia
ORPHA:1791Malformation syndromeNeonatal
Фенотипы (HPO)31
Очень частый (80–99%)13
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000457Depressed nasal ridge
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0000636Upper eyelid coloboma
HP:0002006Facial cleft
HP:0003196Short nose
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0011800Midface retrusion
HP:0100335Non-midline cleft of the upper lip
Частый (30–79%)11
HP:0000175Cleft palate
HP:0000248Brachycephaly
HP:0000384Preauricular skin tag
HP:0000456Bifid nasal tip
HP:0000612Iris coloboma
HP:0001088Brushfield spots
HP:0001140Limbal dermoid
HP:0002084Encephalocele
HP:0007036Hypoplasia of olfactory tract
HP:0007708Absent inner eyelashes
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)7
HP:0000453Choanal atresia
HP:0000482Microcornea
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0001482Subcutaneous nodule
HP:0002079Hypoplasia of the corpus callosum
HP:0004132Dimple on nasal tip
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)