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Disease Profile
Hydranencephaly
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Antenatal
ICD-10
Q04.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hydroanencephaly
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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
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.
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 |
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 | |
0001287 | ||
Opisthotonus | 0002179 | |
0001250 | ||
Spastic diplegia | 0001264 | |
Stiff neck |
Neck stiffness
|
0025258 |
Thalamic edema | 0025040 | |
5%-29% of people have these symptoms | ||
Chorioretinal atrophy | 0000533 | |
0011451 | ||
Optic nerve hypoplasia | 0000609 | |
Ventriculomegaly | 0002119 |
Treatment
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: https://brainfoundation.org.au/contact
Website: https://www.brainfoundation.org.au/ -
Brayden Alexander Global Foundation for Hydranencephaly, Inc.
DBA Global Hydranencephaly Foundation
PO Box 1280
Los Alamos, NM 87544
E-mail: [email protected]
Website: https://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: [email protected] -
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: [email protected]
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: [email protected]
Website: https://www.hydrocephalus.ca
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.
References
- NINDS Hydranencephaly Information Page. NINDS. February 13, 2007; https://www.ninds.nih.gov/disorders/hydranencephaly/hydranencephaly.htm. Accessed 4/11/2012.
- Hydranencephaly. NORD. August 7, 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/369/viewAbstract. Accessed 4/11/2012.
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