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Genetic and Rare Diseases Information Center (GARD)

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Donnai-Barrow syndrome


Other Names for this Disease

  • DBS/FOAR syndrome
  • Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria
  • Faciooculoacousticorenal syndrome
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Overview

Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. It is characterized by unusual facial features, severe sensorineural hearing loss, vision problems, and absence or underdeveloped of the corpus callosum (the tissue connecting the left and right halves of the brain). Individuals with Donnai Barrow syndrome may also have a diaphragmatic hernia, omphalocele, or other abnormalities of the intestine or heart. Affected individuals often have mild to moderate intellectual disability and developmental delay. The condition is caused by mutations in the LRP2 gene and is believed the be inherited in an autosomal recessive manner.[1]
Last updated: 2/5/2010

References

  1. Donnai-Barrow syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=donnaibarrowsyndrome.
Your Questions Answered
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Please contact us with your questions about Donnai-Barrow syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

In Depth Information

  • The 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. 
  • 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 Donnai-Barrow syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DBS/FOAR syndrome
  • Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria
  • Faciooculoacousticorenal syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.