Tuesday 8 May 2007
Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs.
Spondylocostal dysostosis encompasses a spectrum of vertebral abnormalities ranging from spina bifida occulta to large meningomyelocele and from mild to severe thoracic deformities that produce pulmonary hypoplasia and respiratory insufficiency.
very short trunk
disproportionately long extremities
severe thoracic lordosis
posterior fusion of some ribs with greater distance among them in the anterior thorax
relatively long extremities
- 19q13: mutation in the DLL3 gene (MIM.602768)
autosomal recessive spondylocostal dysostosis type 2 (SCDO2)
- 15q26.1: mutations in the MESP2 gene (MIM.605195)
autosomal recessive spondylocostal dysostosis type 3 (SCDO3)
- 7p22: mutations in the LFNG gene (MIM.602576)
These three genes are important components of the Notch signaling pathway.