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

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal corpus striatum morphology		0010994
Blindness		0000618
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Global developmental delay		0001263
Infantile sensorineural hearing impairment		0008610
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Postnatal growth retardation	Growth delay as children	0008897
30%-79% of people have these symptoms
Abnormal cerebral artery morphology	Abnormality of cerebral artery Abnormality of the cerebral arteries [ more ]	0009145
Abnormal dura mater morphology		0010652
Abnormal internal carotid artery morphology		3000062
Abnormality of fontanelles		0011328
Antenatal intracerebral hemorrhage		0007023
Atrophic pituitary gland		0410279
Dilatation of the ventricular cavity		0006698
Dysgenesis of the thalamus		0025099
Hypoplastic hippocampus	Small hippocampus	0025517
Hypotelorism	Abnormally close eyes Closely spaced eyes [ more ]	0000601
Lethargy		0001254
Meningitis		0001287
Opisthotonus		0002179
Seizure		0001250
Spastic diplegia		0001264
Stiff neck	Neck stiffness	0025258
Thalamic edema		0025040
5%-29% of people have these symptoms
Chorioretinal atrophy		0000533
Congenital microcephaly		0011451
Optic nerve hypoplasia		0000609
Ventriculomegaly		0002119

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2020

Do you have updated information on this disease? We want to hear from you.

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

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: 1-888-598-3789
Telephone: +1-301-202-3811
Fax: +1-301-202-3813
E-mail: info@hydroassoc.org
Website: https://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.

Do you know of an organization? We want to hear from you.

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-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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