Oro acral syndrome

Overview

Type of disease: Rare conditions

Oro acral syndrome is a group of conditions that affect the mouth, teeth, face, fingers, and toes. There are 13 different types but most people have Type 1.

There are different symptoms between types; however, listed here are the more common symptoms. Some mouth symptoms include the tongue being split or having a lobed shape, tumors growing on the tongue, missing or broken teeth, or an opening in the roof of the mouth (called a cleft palate). Individuals may have a wide nose with a broad, flat nasal bridge. The nasal bridge is where the nose meets the forehead. Other symptoms include toes and fingers that are not completely separated, shorter than normal, or are bent. Individuals may also have kidney problems, changes in the structure of the brain and bones, vision loss, and heart defects.

This syndrome is caused by a change or mutation in a gene called OFD1. The OFD1 gene is found on the X chromosome, one of the two sex chromosomes. Females have two X chromosomes and males have one X chromosome. When a condition is inherited (passed through families) in an X-linked dominant manner this means that an individual only needs to have one X chromosome with a mutation in the OFD1 gene to cause symptoms of oro acral syndrome.

This disease is diagnosed through physical exams as well as genetic testing and screening. Your health care provider will recommend diagnostic testing depending on the situation. If you or a family member has been diagnosed with oro acral syndrome talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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