Lethal hydranencephaly-diaphragmatic hernia syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Lethal hydranencephaly-diaphragmatic hernia syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
To fund research for treatment and/or a cure for CASK Gene Disorder
For a list of clinical trials in this disease area, please click here.