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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Edinburgh malformation syndrome
MONDO:0007519
Thakker-Donnai syndrome
MONDO:0009202
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
MONDO:0009359
Stromme syndrome
MONDO:0009477
Bartsocas-Papas syndrome 1
MONDO:0009901
endocrine-cerebro-osteodysplasia syndrome
MONDO:0012980