Hydranencephaly

What is microhydranencephaly?

Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

Last updated on 05-01-20

How might hydranencephaly be treated?

Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain).

Last updated on 05-01-20

Where To Start

Brayden Alexander Global Foundation for Hydranencephaly, Inc.

Global Hydranencephaly Foundation has an informational website for this condition.

Last updated on 04-27-20

Name: Brain Foundation P O Box 579 Crows Nest, NSW
1585 Suite 21 Regent House 37-43 Alexander Street Crows Nest, NSW 2065
Australia
Phone: 61 2 9437 5967 Fax : 61 2 9437 5978 Email: http://brainfoundation.org.au/contact Url: http://www.brainfoundation.org.au/
Name: Children's Brain Disease Foundation Parnassus Heights Medical Building, Suite 900
San Francisco, CA, 94117 , United States
Phone: 415-665-3003 Fax : 415-665-3003 Email: jrider6022@aol.com
Name: Hydrocephalus Association 4340 East West Highway Suite 905
Bethesda, MD, 20814, United States
Phone: +1-301-202-3811 Toll Free: 1-888-598-3789 Fax : +1-301-202-3813 Email: info@hydroassoc.org Url: https://www.hydroassoc.org/
Name: Brayden Alexander Global Foundation for Hydranencephaly, Inc. DBA Global Hydranencephaly Foundation PO Box 1280
Los Alamos, NM, 87544, United States
Email: president@ghf.life Url: http://www.ghf.life
Name: Hydrocephalus Canada 16 Four Seasons Place Suite 111
Toronto, M9B 6E5, Canada
Phone: 416-214-1056 Toll Free: 800-387-1575 Fax : 416-214-1446 Email: provincial@sbhao.on.ca Url: http://www.hydrocephalus.ca
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: http://www.marchofdimes.com/contactus.html Url: http://www.marchofdimes.com/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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