Antley-Bixler syndrome

Antley-Bixler syndrome is a very rare disorder that mainly affects the bones of the head and face. It is defined by features such as craniosynostosis, which is the premature fusion of the skull bones, and midface hypoplasia, meaning the middle part of the face does not develop fully. Additionally, people with this condition may have radiohumeral synostosis (where the bones of the upper arm and forearm are joined together), bowing of the thigh bone (femoral bowing), and joint contractures, which can make movement more difficult. These characteristics help doctors recognize the disorder.

Common signs of Antley-Bixler syndrome include premature closure of skull bones (craniosynostosis), an underdeveloped midface, abnormal joining of arm bones (radiohumeral synostosis), bending of the thigh bones (femoral bowing), and tight or fixed joints (joint contractures).

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.