Spondylocostal dysostosis with anal atresia and urogenital anomalies
| Disorder | |
|---|---|
| OMIM #: | 271520 (Click to access OMIM database) |
| Disorder: | Spondylocostal dysostosis with anal atresia and urogenital anomalies |
| Also known as: | Casamassima-Morton-Nance syndrome CMN syndrome |
| Clinical | |
| Phenotype: | spondylothoracic dysplasia, costovertebral dysplasia, other vertebral defects, thorax has a crab-like configuration, anal atresia, single umbilical artery, urogenital anomalies, absent external genitalia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-13 |
| References |
|---|
| Casamassima AC, Morton CC, Nance WE, Kodroff M, Caldwell R, Kelly T, Wolf B. (1981) Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet 8:117-127. PubMed ID: 7246601 |
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