Antley Bixler syndrome is also known as trapezoidocephaly synostosis syndrome. It is a congenital disorder and is very rare in occurrence. It is a autosomal recessive disorder. Disease presents with the multiple skeletal deformities and malformations across the body in various parts of the body.

Primarily there are malformations of head and facial areas along with additional skeletal abnormalities. Some studies show that Antley-Bixler syndrome can be caused by mutation in a fibroblast growth factor receptor gene i.e. FGFR2.

Signs and Symptoms

• Drooping of eyelids
• Brachycephaly
• Frontal bossing
• Arachnodactyly
• Premature closures of skull joints
• Midfacial hypoplasia
• Depressed nasal bridge
• Contractures in joints
• Decreased range of motion across various joints
• Rocker bottom feet
• Large interphalangeal joints
• Stenosed external auditory canal
• Dysplastic Ears
• Hydrocephalus
• Vaginal atresia
• Narrow pelvis and chest
• Defects in Labia Majora
• Fused labia Minora
• Atrial septal Defects
• Enlarged Clitoris

Complications

• Airway Obstruction especially upper airway
• Death of the infant due to respiratory problems
• Contractures across the body
• Pathological fractures
• Craniosynostosis
• Bossing of the skull
• Midline facial Defect

Diagnosis and Investigations

Is mainly by the skeletal features and is generally evident in the Ultrasonography

Treatment and drugs

Are according to the complications and the concerned defect.