Microhydranencephaly

What causes microhydranencephaly?

In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition.

Last updated on 05-01-20

How is microhydranencephaly diagnosed?

A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain).

Last updated on 05-01-20

Is microhydranencephaly inherited?

Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

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: 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: 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

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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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