Familial omphalocele syndrome with facial dysmorphism

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

280403

OMIM code

ICD10 code

Q79.2

ICD11 code

*Soruce