Antley-Bixler syndrome

MONDO:0008803

Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Also known as: Antley Bixler syndrome, multisynostotic osteodysgenesis with long bone fractures, osteodysgenesis, multisynostotic with fractures, osteodysgenesis, multisynostotic, with fractures, trapezoidocephaly synostosis syndrome

3 clinical trials for this condition and its sub-types, 2 tagged with Antley-Bixler syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (91) ↑ Syndromic craniosynostosis (22) ↑ Craniosynostosis syndrome, autosomal recessive (2)

Sub-types of Antley-Bixler syndrome

Including sub-types (3) Tagged with Antley-Bixler syndrome (2)

Trials to join now! 1 Terminated 1

Scientists dive into rare cholesterol disorders to uncover clues

Knowledge-focused Stopped early

This study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

Last updated Aug 14, 2026 00:00 UTC

Antley-Bixler syndrome

Where it sits in the disease tree

Scientists dive into rare cholesterol disorders to uncover clues