Diastrophic dysplasia
| Disorder | |
|---|---|
| OMIM #: | #222600 (Click to access OMIM database) |
| Disorder: | Diastrophic dysplasia |
| Also known as: | |
| Clinical | |
| Phenotype: | scoliosis, other vertebral defects, short stature, ossified pinnae, hypertrophic auricular cartilage, costal cartilage calcification, laryngotracheal stenosis, cleft palate, deformity of first metacarpal - hitchhiker thumb, short fingers talipes equinovarus, short limbs, thick tubular bones, brachydactyly, ulnar deviation |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | SLC26A2 |
| Base Change: | C>T, at nucleotide 835 |
| Amino Acid Change: | arg 279 --> trp |
| Last updated: | 2022-11-03 |
| References |
|---|
| Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. (2018) Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med Jan;20(1):31-41. PubMed ID: 28726809 |
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