Frontonasal dysplasia-alopecia-genital anomalies syndrome
ORPHA:228390Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)19
HP:0000028Cryptorchidism
HP:0000135Hypogonadism
HP:0000248Brachycephaly
HP:0000289Broad philtrum
HP:0000316Hypertelorism
HP:0000430Underdeveloped nasal alae
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0001256Intellectual disability, mild
HP:0001362Skull defect
HP:0001596Alopecia
HP:0002084Encephalocele
HP:0002342Intellectual disability, moderate
HP:0004440Coronal craniosynostosis
HP:0005280Depressed nasal bridge
HP:0011803Bifid nose
Частый (30–79%)11
HP:0000046Small scrotum
HP:0000164Abnormality of the dentition
HP:0000369Low-set ears
HP:0000568Microphthalmia
HP:0000698Conical tooth
HP:0001274Agenesis of corpus callosum
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0002007Frontal bossing
HP:0002213Fine hair
HP:0002335Agenesis of cerebellar vermis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)