National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hydranencephaly

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My 8 month old son has both microcephaly and hydranencephaly. Is there any treatment for hydranencephaly at this stage?

The following information may help to address your question:


How might hydranencephaly be treated?

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

What is microhydranencephaly?

Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[3][4][5]
Last updated: 10/1/2015

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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  1. NINDS Hydranencephaly Information Page. NINDS. February 13, 2007; http://www.ninds.nih.gov/disorders/hydranencephaly/hydranencephaly.htm. Accessed 4/11/2012.
  2. Hydranencephaly. NORD. August 7, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/369/viewAbstract. Accessed 4/11/2012.
  3. Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. August 2012; 13(3):189-194.
  4. Behunova J, Zavadilikova E, Bozoglu TM, Gunduz A, Tolun A, Yalcinkaya C. Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence. Clin Dysmorphol. July 2010; 19(3):107-118.
  5. Marla J. F. O'Neill. MICROHYDRANENCEPHALY. OMIM. April 2014; http://omim.org/entry/605013.