TRAF7 syndrome shows a wide range of clinical variability, but there are certain features that are consistently observed. All reported cases exhibit some degree of neurological or developmental disability, which can vary from mild to severe. The most commonly seen characteristics include intellectual disability, learning difficulties, delays in speech and language development, and motor impairment. Many individuals also experience behavioural problems and muscle weakness. Some patients may have abnormalities in brain structures, such as enlarged ventricles, and a history of seizures or epilepsy.
People with TRAF7 syndrome typically have distinct facial features, including narrow eye openings, widely spaced eyes, a small lower jaw, and low-set ears, which give them a recognizable appearance. Hearing loss and misalignment of the eyes (strabismus) are also common. Additionally, individuals may have abnormal skull shapes, such as a triangular, elongated, or asymmetric head. Skeletal abnormalities, such as finger and toe anomalies, scoliosis, and other spine deformities, are frequently observed. The majority of individuals with TRAF7 syndrome also have cardiovascular abnormalities, with patent ductus arteriosus being the most commonly reported abnormality.
TRAF7