Emanuel syndrome: a physiotherapy overview

Emanuel syndrome is a rare chromosomal disorder arising from an unbalanced translocation between chromosomes 11 and 22, leading to severe developmental delays, and multisystem impairments. Physiotherapy supports motor function in affected children.

An 8-year-old boy with Emanuel syndrome, received five physiotherapy sessions targeting strengthening, trunk control, and balance, with exercises also engaging lower-limb flexibility as part of functional movement practice. Improvements were observed in dynamic sitting balance, calf flexibility, and hand function, before therapy was discontinued.

Individualized physiotherapy can provide meaningful gains, though limited adherence restricts long-term assessment. Greater awareness and timely multidisciplinary care remain important for optimising functional outcomes.