SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: SCDO2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 608681
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck 345 / 7739
2
(HPO:0000902) Rib fusion 15214000 IBIS 19 / 7739
3
(HPO:0003422) Vertebral segmentation defect 15214000 IBIS 95 / 7739
4
(HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
5
(HPO:0002205) Recurrent respiratory infections 254 / 7739
6
(HPO:0002111) Restrictive deficit on pulmonary function testing 44% [HPO:probinson] 25 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

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 ...