Lethal hydranencephaly-diaphragmatic hernia syndrome

Definition

Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.

Disease data

Classification

Malformation syndrome

ORPHA code

480528

OMIM code

ICD10 code

ICD11 code

*Soruce