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Disease Profile

Hydranencephaly

Prevalence
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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 seizureshydrocephalus, 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]

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 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

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]

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

    Social Networking Websites

      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

        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

          1. NINDS Hydranencephaly Information Page. NINDS. February 13, 2007; https://www.ninds.nih.gov/disorders/hydranencephaly/hydranencephaly.htm. Accessed 4/11/2012.
          2. 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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