Clinical Characteristics

The clinical features associated with mutations in the RUSC2 gene are spasticity, hyperreflexia, extensor plantar responses, abnormal EEG-usually hypsarrhythmia (in some patients). Behavioral psychiatric manifestations include aggression, hyperactivity, inattention, autistic features. Other systemic and dysmorphic features include long facies, prognathism, dark infraorbital region, low-set ears, posteriorly rotated ears, thick eyebrows, arched eyebrows, long eyelashes, synophrys, hypertelorism, bulbous nose, prominent nose, high-arched palate, conical teeth, joint hyperlaxity (in some patients), scoliosis, tapering fingers, prominent finger, volar pads, pes cavus, everted feet, pes equinovarus.