How is orofaciodigital syndrome type I diagnosed?

General: Symptoms of orofaciodigital syndrome type I (OFD I) range from mild to severe. OFD I is usually diagnosed early in life but, in the case of very mild symptoms, it may not be diagnosed until later in life. OFD I may be suspected based on the distinctive features of the face, hands, and teeth. In addition, a detailed family history and complete physical exam should be completed.

Imaging: X-rays may allow a clinician to observe abnormalities of the bones of the hands and fingers.

Ultrasound: An ultrasound of the kidneys is a safe, noninvasive imaging method that uses sound waves to take pictures of the kidneys. This is the most common imaging method used to check for cysts in patients.

Genetic testing: If OFD I is suspected, a DNA test may be performed to confirm a diagnosis. A sample of the patient's blood is taken and analyzed in a laboratory for the defect in the OFD1 gene. If this is detected, a positive diagnosis is made.

Prenatal DNA testing: If there is a family history of OFD I, prenatal testing may be performed to determine whether the fetus has the disorder. Amniocentesis and chorionic villus sampling (CVS) can diagnose OFD I. However, because there are serious risks associated with these tests, patients should discuss the potential health benefits and risks with a medical professional. Testing for rare diseases, including OFD I, is often limited and may not be available in the United States.