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Diseases

Genetic and Rare Diseases Information Center (GARD)

Microhydranencephaly


Other Names for this Disease
  • MHAC
  • Hydranencephaly and microcephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2][3]
Last updated: 10/1/2015

References

  1. 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.
  2. 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.
  3. Marla J. F. O'Neill. MICROHYDRANENCEPHALY. OMIM. April 2014; http://omim.org/entry/605013.
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In Depth Information

  • 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Microhydranencephaly. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • MHAC
  • Hydranencephaly and microcephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.