Antley Bixler Syndrome

Antley-Bixler Syndrome is a very rare genetic disorder that is usually inherited as an autosomal recessive trait.

There have been less than 30 cases to date. Children that suffer from this disorder have distinct abnormalities of the head, face and skeleton. Many infants will have a distinct forehead, protruding eyes, a pear shaped nose, low set ears, restricted movement, long, bowing of the legs, thin fingers and toes and fused bones.

This disorder can be diagnosed during pregnancy via ultrasound examination.