Сімейний синдром омфалоцеле з дисморфізмом обличчя
ORPHA:280403· ICD-10 Q79.2· Familial omphalocele syndrome with facial dysmorphism
Визначення(English summary)
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal