What is Oral Facial Digital (OFD) Syndrome?

Also known as: OFD syndrome.

As the name suggests, oral facial digital syndrome is a genetic disorder that primarily affects the development of the mouth, face, fingers and toes. There are actually several different varieties of oral facial digital syndrome that fall under the umbrella term for the disease. The disease is present at birth, and symptoms can persist and worsen as a person ages.

In 1954, researchers Papillon-Leage and Psaume (1954) described eight female patients with abnormal bands in the mouth (frenula) and clefting of the gums (alveolus) and tongue.

These individuals also had dry, sparse hair, sandpaper like appearance of the skin, and various findings in the hands such as short fingers or fused fingers. Individuals with these features were described as having Oral-Facial-Digital Syndrome. There are at least 13 different types of this condition. There is a great deal of overlap in the clinical features of each type. Oral-facial-digital (OFD) syndrome occurs in 1/50,000 to 1/250,000 newborns. OFD, Type 1 is the most common.

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Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM