This website provides information on patients with mutations in the TRAF7 gene, including clinical data, molecular data, management and research options.

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 mild to severe. The most commonly observed features include intellectual disability, delays in speech and language development, and motor impairment or hypotonia. Behavioural problems are also commonly reported in these individuals. Nonspecific brain structure anomalies, such as enlarged ventricles, may also be noted in some patients. Additionally, a subset of individuals may 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.

Not all individuals with a mutation in the TRAF7 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TRAF7 gene.

Roser Urreizti, PhD, CIBERER Researcher at Biochemistry and Genetics Department, Hospital Sant Joan de Deu, Barcelona Spain, roser.urreizti@sjd.es

In collaboration with Aina Prat and Chris Gordon