HEC syndrome

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Synonyms: Hydrocephalus-endocardial fibroelastosis-cataract syndrome

A rare syndromic cardiac disease characterized by communicating hydrocephalus endocardial fibroelastosis and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis rubella cytomegalovirus herpes simplex virus syphilis and galactosemia is reported. There have been no further descriptions in the literature since 1995.

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 June 2024

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HEC syndrome?

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.