TRAF7 syndrome exhibits considerable clinical variability, but certain characteristic features have been consistently observed. All reported cases present with some degree of neurological or developmental disability, which can range from very mild (almost asymptomatic) to severe. The most commonly observed features include intellectual disability, learning difficulties, delays in speech and language development, and motor impairment. Behavioural problems and hypotonia are also frequently reported in these individuals. Nonspecific brain structure anomalies, such as enlarged ventricles, may also be noted in some patients. Additionally, some individuals have a history of seizures or epilepsy.
Dysmorphic craniofacial features, such as blepharophimosis, hypertelorism, micrognathia, and low-set ears, are almost universally present in individuals with TRAF7 syndrome, contributing to a recognizable facies. Sensorineural hearing loss and strabismus has also been noted in TRAF7 syndrome cases. Furthermore, these patients often exhibit skull shape anomalies, including trigonocephaly, dolicocephaly, and plagiocephaly. Skeletal anomalies, such as digital anomalies, scoliosis, and other spine deformities, are also commonly observed. In addition to these features, a majority of individuals with TRAF7 syndrome present with cardiovascular abnormalities. The most commonly reported abnormality is patent ductus arteriosus.
TRAF7