Фронтофаціоназальна дисплазія
ORPHA:1791· ICD-10 Q75.8· Frontofacionasal dysplasia
Визначення(English summary)
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Neonatal