Bohring-Opitz Syndrome

What is Bohring-Opitz syndrome?

Bohring-Opitz syndrome is an extremely rare condition that affects the development of many different parts of the body due to intrauterine growth restriction, specifically in the head with characteristic eye problems, skull abnormalities, and abnormal facial features. Unfortunately, the condition causes recurrent episodes of an abnormally slow heartbeat, which eventually causes death by early adulthood in most patients.

What causes Bohring-Opitz syndrome?

Doctors know that Bohring-Opitz syndrome is caused by a mutation in the ASXL1 gene. However, the inheritance of this syndrome is yet to be known, as all cases to date have occurred sporadically.

What are the symptoms of Bohring-Opitz syndrome?

The following symptoms are characteristic of Bohring-Opitz syndrome:

• Failure to thrive and feeding difficulties
• Sleep apnea
• Developmental delay and intellectual disability
• Decreased or low muscle tone
• Flexion of the elbows or wrists
• Excessive hair growth
• Tumors

How is Bohring-Opitz syndrome diagnosed?

Bohring-Opitz syndrome is diagnosed by evaluating a patient’s medical and family history, conducting a physical examination, and using laboratory tests to look into the features of the condition. Usually, Bohring-Opitz syndrome is able to be diagnosed at birth.

What are the available treatments for Bohring-Opitz syndrome?

Unfortunately, there is currently no cure for Bohring-Opitz syndrome available. The treatment for patients is symptomatic and supportive.

Where can I find more information on Bohring-Opitz syndrome?

• U.S. National Library of Medicine
• NIH
• Bohring-Opitz Syndrome Foundation, Inc.