Study Describes New Rare Disease: TRAF7 Syndrome

According to a story from EurekAlert!, a recent international study is utilizing data from 45 patients to describe a mostly unknown new rare genetic disorder. The researchers are recommending that the disease be designated TRAF7 syndrome, naming the disorder after the gene which appears to cause the illness when mutated. The abstract of the original study, first published in the medical journal Genetics in Medicine, can be found here

Breaking New Ground

This study is one of the first attempts to describe TRAF7 syndrome. Only one previous study about this disorder has ever been released, an early description based on findings from seven patients. The authors of this study included a team from the University of Barcelona and the French Institute of Health and Medical Research, among others. The study identifies some of the distinctive signs and symptoms of the syndrome.

Symptoms of TRAF7 Syndrome

Some of the characteristics of TRAF7 syndrome include distinctive facial features as well as skeletal abnormalities affecting the chest, fingers, and neck. Patients also present with hearing loss, delayed development of motor skills/abilities, and some degree of intellectual disability. TRAF7 syndrome patients also have a certain heart defect called patent ductus arteriosus. 

Patent Ductus Arteriosus

Patent ductus arteriosus is a condition in which a blood vessel called the ductus arteriosus fails to close after birth. Symptoms appear generally within the first year of life when patients fail to gain weight at a normal rate and have difficulty breathing normally. It ultimately can lead to pulmonary hypertension and failure of the right side of the heart. It can appear in babies born prematurely and can usually be surgically corrected as long as other heart defects are not present.

Helping Patients

Other characteristics that can appear in this syndrome include macrocephaly, shortened neck, and horizontally shortened eyelids. While there is still a lot to be learned about TRAF7 syndrome, this study represents a necessary step towards understanding the essential characteristics of the rare disorder and diagnosing patients more rapidly and effectively. Although only a very small number of patients have ever been diagnosed, this early research is critical to improving the lives of patients and identifying treatments and interventions.

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