Spondylocarpotarsal synostosis syndrome

Common Name(s)

Spondylocarpotarsal synostosis syndrome, Scoliosis with unilateral unsegmented bar

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylocarpotarsal synostosis 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 "Spondylocarpotarsal synostosis syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.
 

Author(s): Claire Farrington-Rock, Veneta Kirilova, Lisa Dillard-Telm, Alexander D Borowsky, Sara Chalk, Matthew J Rock, Daniel H Cohn, Deborah Krakow

Journal: Hum. Mol. Genet.. 2008 Mar;17(5):631-41.

 

Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by short stature, and fusions of the vertebrae and carpal and tarsal bones. SCT results from homozygosity or compound heterozygosity for nonsense mutations in FLNB. FLNB encodes filamin ...

Last Updated: 14 Feb 2008

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A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
 

Author(s): C Steiner, N Ehtesham, K D Taylor, E Sebald, R Cantor, L M King, X Guo, T Hang, M S Hu, J-R Cui, B Friedman, D Norato, J Allanson, C Honeywell, G Mettler, F Field, R Lachman, D H Cohn, D Krakow

Journal: J. Med. Genet.. 2004 Apr;41(4):266-9.

 

Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. In a study of three consanguineous families and one non-consanguineous ...

Last Updated: 2 Apr 2004

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Reviews from the PubMed Database

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The terms "Spondylocarpotarsal synostosis 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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