Antley-Bixler syndrome

Overview

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.

https://www.nsgc.org/page/find-a-genetic-counselor

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

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