Disease at a Glance

Summary
Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.
Estimated Number of People with this Disease
In the U.S. there may be between

300 to 3,000

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

64 Symptoms

Tile View
List View
Tile View
List View

Causes

Genetic Disease

Orofaciodigital syndrome 1 is a genetic disease, which means that it is caused by one or more genes not working correctly.

The following gene(s) are known to be associated with this disease: OFD1

Questions:

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

X-linked inheritance
X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. X-linked diseases are caused by disease-causing (pathogenic) variants in genes on the X chromosome. Mutation is an older term that is still sometimes used to mean pathogenic variant.

The inheritance pattern of many X-linked diseases is not clearly dominant or recessive and so the pattern may be stated as X-linked inheritance. Because men have only one copy of genes on the X chromosome, a pathogenic variant in one copy can cause the disease. Women who have a pathogenic variant in one copy of the gene usually have less severe symptoms than males who have the disease or may have no symptoms at all. Women who have pathogenic variants in both copies of the gene would have symptoms similar to men. 

A woman who carries one X-linked pathogenic variant has a 50% (1 in 2) chance of having a son or daughter who has a pathogenic variant in one copy of the gene. A man with an X-linked disease cannot pass on the disease to his sons, but all of his daughters will have a pathogenic variant in one copy of the gene. If a child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother who did not have symptoms or may have occurred by chance for the first time in the child (de novo).
X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. X-linked diseases are caused by disease-causing (pathogenic) variants in genes on the X chromosome. Mutation is an older term that is still sometimes used to mean pathogenic variant.

The inheritance pattern of many X-linked diseases is not clearly dominant or recessive and so the pattern may be stated as X-linked inheritance. Because men have only one copy of genes on the X chromosome, a pathogenic variant in one copy can cause the disease. Women who have a pathogenic variant in one copy of the gene usually have less severe symptoms than males who have the disease or may have no symptoms at all. Women who have pathogenic variants in both copies of the gene would have symptoms similar to men. 

A woman who carries one X-linked pathogenic variant has a 50% (1 in 2) chance of having a son or daughter who has a pathogenic variant in one copy of the gene. A man with an X-linked disease cannot pass on the disease to his sons, but all of his daughters will have a pathogenic variant in one copy of the gene. If a child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother who did not have symptoms or may have occurred by chance for the first time in the child (de novo).
Read More
Next Steps

Talking with the Medical Team

Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.

Describing Symptoms

Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.

To help describe a symptom:

  • Use a smartphone or a notebook to record each symptom before the appointment
  • Describe each symptom by answering the following questions:
    • When did the symptom start?
    • How often does it happen?
    • Does anything make it better or worse?
  • Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

    Make informed decisions about health care: 
    • Prepare a list of questions and concerns before the appointment
    • List the most important questions first, not all questions may be answered in the first visit
    • Ask questions about symptoms, possible diagnoses, tests, and treatment options
    For future appointments:
    • Discuss what was not addressed at the last visit
    • Discuss changes in the quality of life for the patient, family, and caregivers
    • Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
    Take notes during the appointments to help remember what was discussed.

    Last Updated: Nov. 8, 2021