Parents

The TRAF7 syndrome is a rare genetic condition that affects individuals due to specific changes in the TRAF7 gene. It is an ultra-rare disease, with fewer than a hundred reported cases in medical literature. The syndrome can have varying symptoms, but most individuals experience developmental challenges, including delayed speech, difficulties with learning, and behavioural issues. Many people with TRAF7 syndrome have distinct facial features, particularly around the eyes, that give them a recognizable appearance. Other common features include hearing loss and eye misalignment. Some individuals may also have differences in the shape of their skull and skeletal abnormalities, especially in their toes and fingers. It is important to note that cardiovascular problems are often present and can be severe and potentially life-threatening.