Char Syndrome
What is Char Syndrome?
Char syndrome is a rare genetic disorder that affects the development of the face, heart and limbs. It is characterized by the presence of three symptoms: distinctive facial features, patent ductus arteriosus (a heart defect) and hand abnormalities (particularly in the fifth finger or “pinky”). Patent ductus arteriosus is a condition in which the passageway between two major blood vessels, the pulmonary artery and the aorta, fails to close after birth. The middle section of the pinky may be abnormally short or missing altogether.
It is caused by mutations in the TFAP2B gene, that provides the instructions to produce a protein called AP-2β that functions as a transcription factor. Transcription factors are proteins that can regulate the activity of other genes. AP-2β function is particularly important in the development of several parts of the body before birth. The pattern of inheritance is autosomal dominant, one altered copy of the gene is enough to cause the syndrome.
Char syndrome is a rare genetic disorder that affects the development of the face, heart and limbs. It is characterized by the presence of three symptoms: distinctive facial features, patent ductus arteriosus (a heart defect) and hand abnormalities (particularly in the fifth finger or “pinky”). Patent ductus arteriosus is a condition in which the passageway between two major blood vessels, the pulmonary artery and the aorta, fails to close after birth. The middle section of the pinky may be abnormally short or missing altogether.
It is caused by mutations in the TFAP2B gene, that provides the instructions to produce a protein called AP-2β that functions as a transcription factor. Transcription factors are proteins that can regulate the activity of other genes. AP-2β function is particularly important in the development of several parts of the body before birth. The pattern of inheritance is autosomal dominant, one altered copy of the gene is enough to cause the syndrome.
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Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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