Donnai Barrow Syndrome

Common Name(s)

Donnai Barrow Syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Donnai Barrow Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Donnai Barrow Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
 

Author(s): Sibel Kantarci, Nicola K Ragge, N Simon Thomas, David O Robinson, Kristin M Noonan, Meaghan K Russell, Dian Donnai, F Lucy Raymond, Christopher A Walsh, Patricia K Donahoe, Barbara R Pober

Journal: Am. J. Med. Genet. A. 2008 Jul;146A(14):1842-7.

 

Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal ...

Last Updated: 23 Jun 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Donnai Barrow Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.
 

Author(s): Barbara R Pober, Mauro Longoni, Kristin M Noonan

Journal: Birth Defects Res. Part A Clin. Mol. Teratol.. 2009 Jan;85(1):76-81.

 

Mutations in the gene LRP2 have recently been identified as the cause of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) syndrome. More than two dozen cases, the first reported more than 30 years ago by Holmes, have been published. Summarizing available information, we highlight ...

Last Updated: 15 Jan 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Metabolic Screening in Patients With Donnai-Barrow Syndrome
 

Status: Recruiting

Condition Summary: Donnai-Barrow Syndrome

 

Last Updated: 7 Nov 2013

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