Familial Dysautonomia (Riley-Day) - Orthopaedic Features

Familial dysautonomia, or Riley-Day syndrome, is hereditary sensory and autonomic neuropathy type III - an autosomal-recessive disorder, predominantly in Ashkenazi Jewish individuals, due to ELP1 or IKBKAP mutations, with autonomic dysfunction and markedly reduced pain and temperature sensation. A swollen, deformed but painless ankle with an unrecognised fracture is the classic consequence of the insensate state: because the protective function of pain is lost, injuries go unrecognised and joints are repeatedly traumatised, producing Charcot, or neuropathic, joints, along with painless fractures, osteomyelitis and septic arthritis, dislocations, scoliosis and self-injury - the same cluster seen across the congenitally insensate conditions. So I would not be reassured by the absence of pain; I would actively investigate the ankle with radiographs and, if infection is a concern, inflammatory markers and MRI, to characterise the Charcot process and exclude osteomyelitis or septic arthritis, and treat the fracture. The cornerstone of management is prevention through early diagnosis, protection - protective footwear and orthoses, offloading and joint protection - and education of the patient and family to watch for unrecognised injury and infection, because absence of pain does not mean absence of damage. Fractures can often be managed conservatively; progressive scoliosis, deep infection and Charcot instability require operative treatment. I would also remember that the autonomic instability - labile blood pressure and temperature, dysautonomic crises and aspiration risk - makes any anaesthesia and surgery higher-risk, so I would plan carefully with the multidisciplinary team.