Oral Facial Digital Syndrome (OFD)

Also known as: OFD syndrome.

What is Oral Facial Digital (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.

What are the symptoms of OFD Syndrome Type 1?

Common clinical characteristics of OFD, Type 1 are:

• Oral: Cleft tongue (also termed “split tongue” or bifid tongue), nodules, growths, on the tongue, extra, missing, or malformed teeth, cleft palate, bands of extra tissue (hyperplastic frenula) connecting the inside portion of lip and the gum
• Facial: Wide spaced eyes (hypertelorism), small chin, cleft lip
• Digital: Short fingers (brachydactyly), fused fingers or toes (syndactyly), curved digits (clinodactyly), and/or extra fingers/toes (polydactyly).
• Other: Changes in brain structure, intellectual disabilities, cystic disease of the kidneys

What causes OFD Type 1?

OFD, Type 1 is caused by a change, called a mutation, in a gene on the X- chromosome. Humans have 46 chromosomes in each cell of their bodies. The 46 chromosomes come in 23 pairs. One member of each pair comes from a person’s mother and the other from the father. The first 22 chromosomes have numbers because they are the same in males and females. The 23rd pair determines one’s gender. A male has an X and Y chromosome. A female has two X chromosomes. Genes are housed on the chromosomes and they are the actual instructions for all your body features and functions, like eye color. Since we have two of every chromosome, we have two copies of every gene. The exception is with the X and Y chromosomes. Males only have one copy of each gene on the X chromosome. Females have two copies, one on each X chromosome. A mutation in a gene means that there is a change in the instructions, or the code, of that gene making it not function properly.

The gene for OFD, Type 1 is on the X chromosome. Because males only have one X chromosome, if a male has a mutation in the OFD-1 gene, it is typically lethal and resulting in a pregnancy loss. Because females have two X chromosomes, if a mutation exists in one of the OFD-1 genes, they have a normally functioning OFD-1 gene to compensate. However, these females will have features of the OFD, Type 1. This type of inheritance is called X-linked dominant inheritance.

What is the chance of my future children having Oral-Facial-Digital Syndrome, Type 1?

An individual who has OFD, Type 1 is at increased risk for having children with the condition. There is a 25 percent risk for an affected male (usually results in pregnancy loss), 25 percent risk for an affected female, and 50 percent risk for unaffected child (male or female). In cases where the affected child appears to be the first affected girl in the family, the risk for siblings to be affected with OFD, Type 1 is low (<1%). When considering a future pregnancy, genetic counseling can help you understand your specific risk and options for screening and/or prenatal diagnosis.

What is the prognosis for my child with Oral-Facial-Digital Syndrome?

Children with OFD, Type 1 may have difficulty with feeding in the newborn period if there is a cleft palate, nodules in the mouth, or significant frenula. These girls will also need to be monitored closely with regard to developmental milestones, neurological complications, and cystic renal disease. However, the overall outlook for girls with OFD, Type 1 is positive! They will attend school, have friends, and most of all enjoy life!

Reviewed by: Chad A Perlyn, MD

This page was last updated on: May 22, 2023 01:40 PM