Antley-Bixler syndrome without genital abnormalities or disordered steroidogenesis

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Antley-Bixler syndrome without genital abnormalities or disordered steroidogenesis2016-11-24T20:27:29+00:00

Antley-Bixler syndrome without genital abnormalities or disordered steroidogenesis

GENETICS

Definition A condition (OMIM:207410) characterised by craniosynostosis, radiohumeral synostosis appearing in the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures

Molecular pathology Defects of FGFR2, which encodes fibroblast growth factor receptor 2, cause Antley-Bixler syndrome without genital abnormalities or disordered steroidogenesis. 

Synonyms Antley-Bixler syndrome without genital abnormalities or disordered steroidogenesis, multisynostotic osteodysgenesis with long bone fractures, osteodysgenesis—multisynostotic—with fractures, trapezoidocephaly-synostosis syndrome P21802

References http://www.uniprot.org/diseases/P21802

http://www.omim.org/entry/207410

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