Spondylocostal dysostosis 3

Common Name(s)

Spondylocostal dysostosis 3

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylocostal dysostosis 3" for support, advocacy or research.

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylocostal dysostosis 3" for support, advocacy or research.

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Spondylocostal dysostosis 3" returned 3 free, full-text research articles on human participants. First 3 results:

Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.
 

Author(s): Gavin Chapman, Duncan B Sparrow, Elisabeth Kremmer, Sally L Dunwoodie

Journal: Hum. Mol. Genet.. 2011 Mar;20(5):905-16.

 

Mutations in the DELTA-LIKE 3 (DLL3) gene cause the congenital abnormal vertebral segmentation syndrome, spondylocostal dysostosis (SCD). DLL3 is a divergent member of the DSL family of Notch ligands that does not activate signalling in adjacent cells, but instead inhibits signalling ...

Last Updated: 4 Feb 2011

Go To URL
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography.
 

Author(s): Bahauddin I Sallout, Deborah A D'Agostini, Dolores H Pretorius

Journal: J Ultrasound Med. 2006 Apr;25(4):539-43.

 

Last Updated: 28 Mar 2006

Go To URL
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
 

Author(s): P D Turnpenny, M P Bulman, T M Frayling, T K Abu-Nasra, C Garrett, A T Hattersley, S Ellard

Journal: Am. J. Hum. Genet.. 1999 Jul;65(1):175-82.

 

In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple hemivertebrae and rib fusions. SD can be familial, and both autosomal ...

Last Updated: 5 Aug 1999

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Spondylocostal dysostosis 3" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.