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.
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
More Overview Content
Are there other names for Antley-Bixler syndrome?
How common is Antley-Bixler syndrome?
What is the usual abbreviation for Antley-Bixler syndrome?
Is Antley-Bixler syndrome considered a disorder of steroidogenesis?
What are the most common health problems in Antley-Bixler syndrome?
Are there other names for Antley-Bixler syndrome?
Antley-Bixler syndrome (ABS) can be referred to by many names. The list below separates the two forms of ABS and their associated alternative names.
ABS with genital anomalies and disordered steroidogenesis
- Ambiguous genitalia-disordered steroidogenesis Antley-Bixler-like syndrome
- Antley-Bixler syndrome type 2
- Antley-Bixler syndrome, POR-related
- Congenital adrenal hyperplasia due to cytochrome POR deficiency
- Cytochrome POR deficiency
- POR deficiency
- PORD
ABS without genital anomalies and disordered steroidogenesis
- Trapezoidocephaly synostosis syndrome
- Multisynostotic osteodysgenesis with long bone fractures
- Osteodysgenesis, multisynostotic with fractures
References
- INSERM. (n.d.). The portal for rare diseases and orphan drugs. Retrieved December 24, 2018, from https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10819&Disease_Disease_Search_diseaseGroup=Antley-Bixlersyndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Antley-Bixler-syndrome-with-genital-anomaly-and-disorder-of-steroidogenesis&title=Antley-Bixler%20syndrome%20with%20genital%20anomaly%20and%20disorder%20of%20steroidogenesis&search=Disease_Search_Simple
- McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/207410
How common is Antley-Bixler syndrome?
Antley-Bixler syndrome (ABS) is a very rare genetic disorder, however it is suspected that many mild cases have not been reported. Currently, the prevalence of ABS is unknown.
References
- Idkowiak, J. (2017, August 03). Cytochrome P450 Oxidoreductase Deficiency. Retrieved December 25, 2018, from https://www.ncbi.nlm.nih.gov/books/NBK1419
- Cytochrome P450 oxidoreductase deficiency - Genetics Home Reference - NIH. (n.d.). Retrieved December 25, 2018, from https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency#statistics
What is the usual abbreviation for Antley-Bixler syndrome?
ABS
References
Is Antley-Bixler syndrome considered a disorder of steroidogenesis?
When Antley-Bixler syndrome is caused by changes to the POR gene it is considered a disorder of steroidogenesis. Changes to the POR gene decreases activity of the cytochrome P450 oxidoreductase leading to the disruption of steroid hormone production.
References
- Cytochrome P450 oxidoreductase deficiency - Genetics Home Reference - NIH. (n.d.). Retrieved December 25, 2018, from https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency#statistics
What are the most common health problems in Antley-Bixler syndrome?
Antley-Bixler syndrome has a broad spectrum of health problems associated with it, and these can range from mild to severe. Common symptoms include premature closure of skull bones (craniosynostosis), flattened midface (midface hypoplasia), nasal passage blockage (choanal atresia), prominent forehead (frontal bossing), protruding eyes (proptosis) and low set, dysplastic ears. Other distinct features include multiple joint contractures, fusion of forearm bones (synostosis), unusually long, slender fingers (arachnodactyly), and bowing of the thighbones. Genital anomalies with sexual ambiguity due to impaired steroidogenesis can occur in a specific type of ABS. Intellectual development is variable.
To learn more about symptoms, please visit the "Symptoms" section.
Find a genetic counselor in your area for more information on hereditary conditions.
References
- Cytochrome P450 oxidoreductase deficiency - Genetics Home Reference - NIH. (n.d.). Retrieved December 25, 2018, from https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency#statistics
