Bjornstad Syndrome

Common Name(s)

Bjornstad Syndrome

Bjornstad syndrome is a very rare condition characterized by abnormal hair and hearing problems. People with this condition suffer from pili torti, or “twisted hair.” This causes the hair on their head to be brittle and break easily. Symptoms may include: dry, fragile, or course hair, or patches of hair loss (alopecia). Both hearing problems, which can range from mild to severe, and abnormal hair present before the age of two. Bjornstad syndrome is autosomal recessive, meaning an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease. Fewer than 50 cases have been reported, so treatment varies on a case-by-case basis.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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 "Bjornstad Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
 

Author(s): J Travis Hinson, Valeria R Fantin, Jost Schönberger, Noralv Breivik, Geir Siem, Barbara McDonough, Pankaj Sharma, Ivan Keogh, Ricardo Godinho, Felipe Santos, Alfonso Esparza, Yamileth Nicolau, Edgar Selvaag, Bruce H Cohen, Charles L Hoppel, Lisbeth Tranebjaerg, Roland D Eavey, J G Seidman, Christine E Seidman

Journal: N. Engl. J. Med.. 2007 Feb;356(8):809-19.

 

The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36.

Last Updated: 31 Dec 1969

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The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
 

Author(s): J F Lubianca Neto, L Lu, R D Eavey, M A Flores, R M Caldera, S Sangwatanaroj, J J Schott, B McDonough, J I Santos, C E Seidman, J G Seidman

Journal: Am. J. Hum. Genet.. 1998 May;62(5):1107-12.

 

We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Bjornstad Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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