Split-hand/foot malformation with long bone deficiency 3
| Disorder | |
|---|---|
| OMIM #: | #612576 (Click to access OMIM database) |
| Disorder: | Split-hand/foot malformation with long bone deficiency 3 |
| Also known as: | SHFLD3 Chromosome 17p13.3, telomeric, duplication syndrome |
| Clinical | |
| Phenotype: | tibial hypoplasia, hand malformations, foot malformations, high phenotypic variability |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal dominant |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | |
| Base Change: | 17p13.3 microduplication |
| Amino Acid Change: | |
| Last updated: | 2022-11-13 |
| References |
|---|
| Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. (2011) 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet Nov;19(11):1144-51. PubMed ID: 21629300 |
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