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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Antley Bixler syndrome


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

Other Names for this Disease
  • Antley-Bixler syndrome
  • Multisynostotic osteodysgenesis with long bone fractures
  • Osteodysgenesis, multisynostotic with fractures
  • Trapezoidocephaly synostosis syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.