Hydranencephaly

Información en español Title

Other Names:

Hydroanencephaly

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more.^[1] It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium.^[2] Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt.^[1]

Last updated: 4/11/2012

Treatment Treatment

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).^[1]^[2]

Last updated: 4/11/2012

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Brain Foundation
P O Box 579
Crows Nest, NSW
1585 Suite 21
Regent House 37-43
Alexander Street Crows Nest, NSW 2065
Australia
Telephone: 61 2 9437 5967
Fax: 61 2 9437 5978
E-mail: http://brainfoundation.org.au/contact
Website: http://www.brainfoundation.org.au/
Brayden Alexander Global Foundation for Hydranencephaly, Inc.
DBA Global Hydranencephaly Foundation
PO Box 1280
Los Alamos, NM 87544
E-mail: president@ghf.life
Website: http://www.ghf.life
Children's Brain Disease Foundation
Parnassus Heights Medical Building, Suite 900
San Francisco, CA 94117
Telephone: 415-665-3003
Fax: 415-665-3003
E-mail: jrider6022@aol.com
Hydrocephalus Association
4340 East West Highway Suite 905
Bethesda, MD 20814
Toll-free: 888-598-3789
Telephone: 301-202-3811
Fax: 301-202-3813
E-mail: info@hydroassoc.org
Website: http://www.hydroassoc.org
Hydrocephalus Canada
16 Four Seasons Place
Suite 111
Toronto, M9B 6E5 Canada
Toll-free: 800-387-1575
Telephone: 416-214-1056
Fax: 416-214-1446
E-mail: provincial@sbhao.on.ca
Website: http://www.hydrocephalus.ca

Social Networking Websites

Visit the Global Hydranencephaly Foundation group on Facebook.

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Global Hydranencephaly Foundation has an informational website for this condition.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Hydranencephaly. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

GARD Answers GARD Answers

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