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Diseases

Genetic and Rare Diseases Information Center (GARD)

Antley Bixler syndrome


Other Names for this Disease
  • Trapezoidocephaly synostosis syndrome
  • Multisynostotic osteodysgenesis with long bone fractures
  • Osteodysgenesis, multisynostotic with fractures
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Overview

Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. The exact underlying cause of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 6/16/2015

References

  1. Antley Bixler Syndrome. NORD. 2007; http://rarediseases.org/rare-diseases/antley-bixler-syndrome/.
  2. Boia ES, Popoiu MC, Puiu M, Stanciulescu CM, David VL. Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report. Med Princ Pract. 2014; 23(4):384-386.
  3. Lahiri S, Ghoshal B, Nandi D. A case of antley-bixler syndrome. J Clin Neonatol. January 2012; 1(1):46-48.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Antley-Bixler Syndrome With Genital Anomalies and Disordered Steriodogenesis
    Antley-Bixler Syndrome Without Genital Anomalies and Disordered Steriodogenesis
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Antley Bixler syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Trapezoidocephaly synostosis syndrome
  • Multisynostotic osteodysgenesis with long bone fractures
  • Osteodysgenesis, multisynostotic with fractures
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.