Spondylocostal Dysostosis HANNAH mONTROSS

Spondylocostal Dysostosis when there is an unusual development of someone's bones, particularly occurring in the spine and ribs.

Symptoms include, a short neck a torso, missing ribs and disfigured bones. The disease is recessive.

The MESP2 gene can cause Spondylocostal Dysostosis it can effect the Notch pathway.

The protein produced by Spondylocostal Dysostosis is a Delta Like Protein.

Saul Jarcho and Paul Levin discovered this disease in 1938 due to several cases of vertebral and rib abnormalities.

The incidence rate for Spondylocostal Dysostosis was unknown but this disease is very rare.

The diagnosis is two mutated alleles in one of the genes. Prognosis is unknown.

Spondylocostal Dysostosis effects men and women equally but has a higher rate effecting Hispanics.

There is no cure for this disease but doctors suggest treatment for respiratory infections.

Some research is being done on reconstructing the chest wall but it has not been very successful.

"Computed tomography dorsal spine showing hemivertebra at D8, butterfly vertebra at D10 and absent ribs on left side." Journal of Pediatric Neurosciences,2017, www.pediatricneurosciences.com. Accessed 5 Feb. 2017.

"Delta-like 3 Isoform 2 Precursor." National Center for Biotechnology Information, National Library of Medicine, 2017, www.ncbi.nlm.nih.gov. Accessed 31 Jan. 2017.

"DLL3 Antibody." Antibodies-online.com, 2017, www.antibodies-online.com/antibody/951924/anti-delta+Like+Protein+3+DLL3+AA+526-556,+C-Term+antibody/.Accessed 5 Feb. 2017.

"Jarcho-Levin Syndrome." National Organisation for Rare Disorders, 2017,rarediseases.org. Accessed 31 Jan. 2017.

"The Outcome of Jarcho-Levin Syndrome." Indian Journal of Plastic Surgery, 2017,www.ijps.org. Accessed 5 Feb. 2017.

"Spondylocostal Dysostosis." Genetics Home Reference, U.S. National Library ofMedicine, 2017, ghr.nlm.nih.gov. Accessed 31 Jan. 2017.

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