Symbol
| SCDO2
|
Location
| 15q26.1
|
Name
|
spondylocostal dysostosis, type 2 |
Other name(s)
|
Jarcho-Levin Syndrome
spondylothoracic dysostosis |
Corresponding gene
|
MESP2
|
Other symbol(s)
| STD, JLS
|
Main clinical features
|
general vertebral segmentation defect
abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a "crab-like" configuration of the thorax |
Genetic determination
| autosomal recessive |
Function/system disorder
| osteo-articular |
Type
| disease
|