Syndactyly Cenani Lenz type

Overview

Type of disease: Rare conditions

Syndactyly Cenani Lenz type is a rare genetic disorder mainly characterized by syndactyly (fingers that are joined together). In this condition there are usually many problems with the bones of the hand, such as having hand bones that are joined together, less than five fingers, and missing bones in the wrist. The toes may also be joined together.

Other bones can also be affected for individuals with syndactyly Cenani Lenz type. Many times the two forearm bones are shorter than usual, some vertebrae (bones of the spine) are missing, and ribs are joined together. There are also several facial characteristics including a prominent forehead, a large distance between the eyes, a short nose, deep set eyes, low set ears, a far back jaw, and small cheek bones. In about 50% of cases, individuals may have either a missing kidney or a kidney that is small and not able to work properly.

Syndactyly Cenani Lenz type is a genetic condition caused by a change in the LRP4 gene. The condition is normally diagnosed by physical exam, but it can also be diagnosed before a child is born through ultrasound. Children often get surgery that can fix the fingers that are joined together, but the overall outcome depends on the specific individual’s symptoms. If you or a family member has been diagnosed with this condition, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

Connect. Empower. Inspire.