Lethal hydranencephaly-diaphragmatic hernia syndrome

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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