Fibular aplasia-ectrodactyly syndrome explained
| Fibular aplasia-ectrodactyly syndrome |
| Synonyms: | Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia[1] |
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Fibular aplasia-ectrodactyly syndrome is a very rare genetic disorder which is characterized by aplasia/hypoplasia of the fibula, ectrodactyly, and/or brachydactyly/syndactyly. Additional symptoms include shortness of the femur and tibial/knee/hip/ankle defects. This disorder is inherited in an autosomal dominant manner.[2] [3] [4] [5] [6]
Etiology
This disorder was first described in 2002 by Evans et al.. It was discovered that this disorder seems to have a male preference in sporadic cases, but tends to have an equal male-female preference in familial cases. Offspring have a higher chance of being born with the disorder if the mother carries the gene or is affected herself.[7]
This disorder is very rare, since only 60 cases have been recorded in medical literature.
Notes and References
- Web site: Fibular aplasia ectrodactyly . 16 June 2022 .
- Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Fibular aplasia ectrodactyly syndrome . 2022-05-14 . www.orpha.net . en.
- Gieruszczak-Bialek . D . Oldak . Monika . Skorka . Agata . Waligora . J . Korniszewski . L . 2006-02-28 . Fibular aplasia with ectrodactyly - Broadening the clinical spectrum . European Journal of Medical Genetics . 49 . 1 . 83–6 . 10.1016/j.ejmg.2005.04.019. 16473314 .
- Zárate . Juan Manuel Guevara . Rodríguez . Andrea J. . Ortiz . Carlos A. . 2018-06-21 . Síndrome de FATCO (aplasia fibular, campomelia de tibia y oligosindactilia) en paciente masculino: reporte de caso . Revista Colombiana de Medicina Física y Rehabilitación . en . 28 . 1 . 70–74 . 10.28957/rcmfr.v28n1a7 . 81733923 . 2256-5655. free .
- Web site: OMIM Entry - 113310 - BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA . 2022-05-14 . omim.org . en-us.
- Web site: Fibular aplasia ectrodactyly - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-14 . rarediseases.info.nih.gov . en.
- Evans . Jane A. . Reed . Martin H. . Greenberg . Cheryl R. . 2002-11-15 . Fibular aplasia with ectrodactyly . American Journal of Medical Genetics . 113 . 1 . 52–58 . 10.1002/ajmg.10754 . 0148-7299 . 12400066.
