Burn-Mckeown Syndrome

Common Name(s)

Burn-Mckeown Syndrome

Burn-McKeown syndrome is a rare condition in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears (summary by {6:Wieczorek et al., 2014}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Burn-Mckeown 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 "Burn-Mckeown Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
 

Author(s): Dagmar Wieczorek, William G Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, Daniela Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton-Smith, Sarah B Daly, Simon G Williams, Sanjeev S Bhaskar, Jill E Urquhart, Beverley Anderson, James O'Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J van Essen, Filiz Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar R Lohmann, Kerstin U Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R Lemke, Charles Marques Lourenco, Ute Hehr, Eva-Christina Prott, Melanie Waldenberger, Anne C Böhmer, Bernhard Horsthemke, Raymond T O'Keefe, Thomas Meitinger, John Burn, Hermann-Josef Lüdecke, Tim M Strom

Journal: Am. J. Hum. Genet.. 2014 Dec;95(6):698-707.

 

Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g., Nager syndrome and mandibulofacial dysostosis type Guion-Almeida. The U5 spliceosomal complex of eight highly conserved proteins is critical for pre-mRNA splicing. ...

Last Updated: 6 Dec 2014

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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 "Burn-Mckeown Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.