Antley-Bixler syndrome

Overview

What is Antley-Bixler syndrome?

Antley-Bixler syndrome (ABS) is a rare genetic disorder characterised by skeletal malformations, especially craniofacial abnormalities. There are two forms of ABS: ABS with genital anomalies and disordered steroidogenesis, and ABS without genital anomalies and disordered steroidogenesis. These forms are two distinct disorders caused by mutations in the POR gene or the FGFR2 gene, respectively.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/antley-bixler-syndrome-109452/overview/67158 • DATE UPDATED: 2019-02-07

References

Antley Bixler syndrome. (n.d.). Retrieved December 24, 2018, from https://rarediseases.info.nih.gov/diseases/5826/index

McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/201750

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