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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