SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
|Number of Symptoms||7|
Prevalence, inheritance and age of onset:
|Prevalence:||No data available.|
Autosomal recessive inheritance
|Age of onset:||
Disease classification (adopted from Orphanet):
|Parent Diseases:||No data available.|
||(HPO:0000470)||Short neck||345 / 7739|
||(HPO:0000902)||Rib fusion||15214000||IBIS||19 / 7739|
||(HPO:0003422)||Vertebral segmentation defect||15214000||IBIS||95 / 7739|
||(HPO:0003521)||Disproportionate short-trunk short stature||29 / 7739|
||(HPO:0002205)||Recurrent respiratory infections||254 / 7739|
||(HPO:0002111)||Restrictive deficit on pulmonary function testing||44% [HPO:probinson]||25 / 7739|
||(HPO:0000007)||Autosomal recessive inheritance||2538 / 7739|
ClinVar (via SNiPA)
|Gene symbol||Variation||Clinical significance||Reference|
|Description: (OMIM)||Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (277300).|
|Clinical Description OMIM||
Whittock et al. (2004) studied a consanguineous Lebanese Arab family in which 2 offspring were affected with spondylocostal dysostosis. Affected individuals presented with trunkal shortening and short necks but no other abnormalities. On radiologic examination, thoracic vertebrae bore ...
|Molecular genetics OMIM||
Whittock et al. (2004) demonstrated homozygosity for a 4-bp duplication mutation in the MESP2 gene (605195.0001) in affected members of a consanguineous Lebanese Arab family with spondylocostal dysostosis.
In 11 Puerto Rican probands with spondylocostal dysostosis, ...
|Population genetics OMIM||
Cornier et al. (2004, 2008) noted that the prevalence of spondylocostal dysostosis is very high in Puerto Rico, comprising 49% of the cases reported in the literature. In the study by Cornier et al. (2004), 91% of 27 ...