Antley Bixler Syndrome

Definition

Definition of Antley Bixler Syndrome
Antley-Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.

Symptoms

Symptoms of Antley Bixler Syndrome
Consult with your doctor.

Causes

Causes of Antley Bixler Syndrome
Autosomal Recessive

Diagnosis

Diagnosis of Antley Bixler Syndrome
McGlaughlin et al. (2010) noted that craniosynostosis and radiohumeral synostosis present from the perinatal period are generally considered to be the minimum criteria for a diagnosis of Antley-Bixler syndrome.

Treatment

Treatment of Antley Bixler Syndrome
Early survival depends in the release of the upper airway obstruction. Longer-term survival depends on the severity of associated malformations. Cranial vault remodeling to relieve craniosynostosis is important for the prevention of mental impairment.

Prognosis

Prognosis of Antley Bixler Syndrome
One third of affected children are alive, and some have had quite satisfactory development. Some patients with the syndrome have normal intelligence, which suggests a normally developing brain.

Prevention

Prevention of Antley Bixler Syndrome
Consult with your doctor.