Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ORPHA:306542Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Частый (30–79%)25
HP:0000175Cleft palate
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000349Widow's peak
HP:0000358Posteriorly rotated ears
HP:0000384Preauricular skin tag
HP:0000405Conductive hearing impairment
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000508Ptosis
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000625Eyelid coloboma
HP:0000653Sparse eyelashes
HP:0001156Brachydactyly
HP:0001274Agenesis of corpus callosum
HP:0002006Facial cleft
HP:0005258Pectoral muscle hypoplasia/aplasia
HP:0005466Hypoplasia of the frontal bone
HP:0009119Aplasia/Hypoplasia of the frontal sinuses
HP:0011803Bifid nose
HP:0040019Finger clinodactyly
HP:0045075Sparse eyebrow
HP:0100490Camptodactyly of finger
Периодический (5–29%)4
HP:0001249Intellectual disability
HP:0001636Tetralogy of Fallot
HP:0004423Cranium bifidum occultum
HP:0006931Lipoma of corpus callosum
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)