Otofaciocervical syndrome

Common Name(s)

Otofaciocervical syndrome

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {5:Pohl et al., 2013}). Genetic Heterogeneity of Otofaciocervical Syndrome OTFCS2 ({615560}) is caused by mutation in the PAX1 gene ({167411}) on chromosome 20p11.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.
 

Author(s): B Dallapiccola, R Mingarelli

Journal: J. Med. Genet.. 1995 Oct;32(10):816-8.

 

Last Updated: 31 Dec 1969

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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 "Otofaciocervical 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.