Hydranencephaly
A rare cerebral malformation characterized by an almost or complete lack of cortex specifically the cerebral hemispheres with the cranium and meninges completely intact. In most cases death occurs in utero or in the first weeks of life. Developmental delay drug-resistant seizures spastic diplegia severe growth failure deafness and blindness are typical.
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 April 2024
Newly diagnosed with
Hydranencephaly?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Global Hydranencephaly Foundation
We work to ensure the preservation of human rights for people with hydranencephaly, a rare neurological condition.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.