Ongoing research is working to find a blood test to determine carriers of the defective gene. The specific genes on the chromosomes are being mapped. A highly specialized laboratory test is not yet available, but will be in the near future. There are other syndromes associated with the name of Dr. John M. Opitz. They are different syndromes sharing the name of one busy geneticist.
Affected individuals have a distinctive facial appearance.
The skull may grow slowly. Some have large heads, while others have small heads. There may be some problems with the tear ducts. Often the sinuses are malformed. There may be a flat nasal bridge.