Spondyloepiphyseal dysplasia and humerospinal dysostosis
| Disorder | |
|---|---|
| OMIM #: | #143095 (Click to access OMIM database) |
| Disorder: | Spondyloepiphyseal dysplasia and humerospinal dysostosis |
| Also known as: | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS SEDCJD HUMEROSPINAL DYSOSTOSIS HSD SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CDMD |
| Clinical | |
| Phenotype: | dislocation of the knees and/or hips at birth, elbow dislocation, elbow joint dysplasia with subluxation and limited extension, arthropathy, brachydactyly, camptodactyly, talipes equinovarus, other skeletal defects, transverse palmar creaseshort stature, progressive kyphosis developing in late childhood, congenital heart defect, cardiomegaly |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | CHST3 |
| Base Change: | C>T, at nucleotide 1298 |
| Amino Acid Change: | pro 433 --> leu |
| Last updated: | 2022-11-13 |
| References |
|---|
| Crowgey EL, Washburn MC, Kolb EA, Puffenberger EG. (2019) Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. J Mol Diagn Jul;21(4):687-694. PubMed ID: 31028937 |
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