OFD: General Information

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Oral-Facial-Digital Syndromes (OFDS) Research Study

General Information about OFDS

What are the Oral-Facial-Digital Syndromes (OFDS)?
This is an umbrella term describing numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. When changes happen to many different parts of the body, this is called a syndrome. The literature reports up to thirteen types of OFDS, but research is necessary to confirm and clarify all of these types.
What causes Oral-Facial-Digital Syndrome?
We know that our bodies develop by following the instructions that genes give. When a body part develops differently than normal, it is because the gene that it receives instructions from has changed in some way. Researchers are still learning about the different genes that cause the features of all the types of OFDS. They do know the gene responsible for OFD Type I, so a patient's blood can be tested to see if there is a change in the OFD1 gene. This can help to rule out other diagnoses since some features of the OFDS types overlap.
How do the OFDS run in families?
There are so few cases of each type of OFDS that it can be hard to determine a specific pattern of inheritance. Genetic counseling is recommended to explore your specific family history if you have relatives or a child with OFDS. That said, many reports describe siblings with OFDS. Some types of OFDS are related to the X chromosome, which is one of the sex chromosomes, and seem to only affect boys or only affect girls. OFDS can also occur even if there is no family history of the syndrome. It has been documented that in OFDS I, 75% of the cases are sporadic, without any family history of occurrence. Genetic counselors can help to explain these patterns of inheritance in greater detail.
What are the different types of OFDS?

There is also a high degree of variability even within one type of OFDS.

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Last Reviewed: March 17, 2014