Cerebro-osteo-nephrodysplasia
| Disorder | |
|---|---|
| OMIM #: | 236450 (Click to access OMIM database) |
| Disorder: | Cerebro-osteo-nephrodysplasia |
| Also known as: | COND Hutterite cerebra-osteo-nephrodysplasia syndrome |
| Clinical | |
| Phenotype: | growth deficiency, microcephaly, jaundice, optic atrophy, nephrotic syndrome, macroglossia, developmental delay, midfacial hypoplasia, upturned nose, opisthotonic posturing, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-03 |
| References |
|---|
| Lowry RB. (1997) A further case of Hutterite cerebro-osteo-nephrodysplasia. Am J Med Genet 72(4):386. PubMed ID: 9375717 |
| Opitz JM, Lowry RB, Holmes TM, Morgan K. (1985) Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana. Am J Med Genet 22(3):521-9. PubMed ID: 4061488 |
| Tachibana K. (2001) Cerebro-nephro-osteodysplasia (Hutterite type). Ryoikibetsu Shokogun Shirizu (33):356. PubMed ID: 11462473 |
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