Bloom Syndrome
| Disorder | |
|---|---|
| OMIM #: | #210900 (Click to access OMIM database) |
| Disorder: | Bloom Syndrome |
| Also known as: | |
| Clinical | |
| Phenotype: | growth deficiency, dolichocephaly, microcephaly, molar hypoplasia, hypopigmented skin, hyperpigmented skin, prominent nose, prominent ears, hypodontia, syndactyly, polydactyly, clinodactyly of fifth finger, cryptorchidism, azoospermia, chromosomal instability, cutaneous telangiectasia, developmental delay, leukemia, lymphoma, adenocarcinoma |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 | |
| Gene: | BLM |
| Base Change: | |
| Amino Acid Change: | |
| Last updated: | 2022-11-03 |
| References |
|---|
| Weksberg R, Smith C, Anson-Cartwright L, Maloney K. (1988) Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am. J. Hum. Genet. 42:816-824. PubMed ID: 3163468 |
| Willis AE, Weksberg R, Tomlinson S, and Lindahl T. (1987) Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci U S A 84(22): 8016-8020. PubMed ID: 3479778 |
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