The TRAF7 syndrome is an autosomal dominant rare syndrome caused by germline heterozygous missense mutations, primarily located in the WD40 domain of the TRAF7 gene. Less than a hundred cases have been reported in the literature, making it an ultra-rare disease. While the clinical presentation varies greatly, all reported cases show some degree of developmental impairment, primarily characterized by speech delay, learning difficulties, and behavioural problems. Dysmorphic facial features, particularly related to palpebral fissures, are almost universally present, contributing to a recognizable facial appearance. Sensorineural hearing loss and strabismus are also common features. Additionally, patients often exhibit skull shape anomalies and skeletal abnormalities, oftenly affecting toes and fingers. Moreover, the majority of individuals with TRAF7 syndrome have cardiovascular abnormalities, which are typically the most severe and potentially life-threatening complications.
TRAF7