TELO2-related syndrome is condition that may interest every apparatus, but nervous system involvement is predominant.
Children do not usually present any problem at birth, but later all children present a delay of developmental stages, evolving in intellectual disability, usually severe. Gait is usually characterized by a stiff and unstable pattern (ataxic-spastic gait) and sometimes ocular movement abnormalities are present; expressive language is invariably absent or limited to few single words, while comprehension may be more developed. Some patients may also show behavioral comorbidities, mainly anger outbursts and/or aggressiveness (both self than hetero directed) or features recalling Autism Spectrum Disorder; sleep disturbance affects is present in about 50% of cases.
Patients may be shorter than what expected from family target, as well as head circumference is far below standards (microcephaly). Some other features have been described, but the small number of patients described so far do not permit to confirm if such features can be ascribed to the disease or if otherwise are are a casual association.
In particular, epilepsy may be present and some of the reported patients show epileptic activity at EEG registration but no epileptic manifestations. Additionally, skeletal anomalies (minor hands and feet malformations, scoliosis, congenital feet deformity), ocular abnormalities (cortical visual impairment, congenital cataracts), hearing loss, and cardiovascular or genitourinary defects have been described.
A more extensive description of the broad clinical spectrum of TELO2-related syndrome can be found in the section Professionals – Clinical characteristics.
TELO2