What Is Oral-Facial-Digital Syndrome?

Oral-facial-digital syndrome is a medical term used to describe a set of conditions that affect the development of the face, oral cavity, and the fingers and toes. There are several different variations of this syndrome, each classified by their distinct patterns of symptoms. Some of the most common symptoms of oral-facial-digital syndrome include an abnormally shaped tongue, a split in the lip, and deformities involving the fingers and toes. Treatment is directed toward correcting each specific deformity and often involves surgical intervention. Any questions or concerns about oral-facial-digital syndrome or individualized treatment options should be discussed with a doctor or other medical professional.

A gene mutation is believed to be the cause of oral-facial-digital syndrome, and most patients afflicted with this disorder are female. In some cases, a woman who has mild symptoms may not be accurately diagnosed until another female born into the family presents with a more severe case of the syndrome. Males who develop this condition rarely live past infancy, with many of them not surviving to full-term gestation inside the womb.

Abnormalities affecting the oral cavity in those with oral-facial-digital syndrome often involve a split, or cleft, tongue. The tongue may also have an abnormal shape or develop one or more non-cancerous lumps or tumors. Teeth abnormalities or deformities may be present, frequently causing missing or extra teeth. A cleft palate, or an opening in the roof of the mouth, is another common symptom of this disorder.

Facial deformities are also common in cases of oral-facial-digital syndrome. These deformities may include a cleft lip or an abnormally wide nose. A condition known as hypertelorism causes the eyes to be spaced further apart than normal and is a common symptom of this disorder. There may be additional facial deformities present, depending on the exact type of genetic mutation present. Structural and cosmetic surgery may be used to correct any deformities that result in breathing, feeding, or vision problems.

Those with oral-facial-digital syndrome may present with a variety of deformities affecting the fingers and toes. In some cases, the digits are fused together and may be shorter than usual. In other cases, the fingers or toes may be curved in an unusual manner. Extra fingers or toes are present in a majority of those with this syndrome. Some of the different forms of this condition may affect other organs of the body, such as the kidneys, eyes, or brain.