Antley–Bixler syndrome is a rare, severe autosomal recessive[2] congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.

[2] Other symptoms, such as cardiac malformations, proptotic exophthalmos (bulging eyes), arachnodactyly (spider-like fingers) as well as nasal, anal and vaginal atresia (occlusion) have been reported.

[citation needed] The diagnosis of Antley–Bixler syndrome is usually made after birth (postnatally) based upon a thorough clinical evaluation and characteristic physical findings.

[citation needed] In some children, a diagnosis of Antley–Bixler syndrome may be suggested before birth (prenatally) based upon tests such as ultrasound.

These professionals may include pediatricians, surgeons, physicians who specialize in disorders of specific body areas and organs.