Antley Bixler syndrome
Other Names for this Disease
- Trapezoidocephaly synostosis syndrome
- Multisynostotic osteodysgenesis with long bone fractures
- Osteodysgenesis, multisynostotic with fractures
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.Antley Bixler syndrome is a rare condition that is primarily characterized by
Last updated: 6/16/2015
- Antley Bixler Syndrome. NORD. 2007; http://rarediseases.org/rare-diseases/antley-bixler-syndrome/.
- 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.
- Lahiri S, Ghoshal B, Nandi D. A case of antley-bixler syndrome. J Clin Neonatol. January 2012; 1(1):46-48.
- 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.
- 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.