Nonspinal Orthopaedic Problems in Familial Dysautonomia (Riley–Day Syndrome)

Familial dysautonomia (FD) is a rare autosomal recessive disease occurring in Ashkenazi Jews. It affects the autonomic, central, and peripheral nervous systems. The purpose of this study was to assess the prevalence and characteristics of orthopedic deformities, other than spinal deformities, in this population. A retrospective review of the medical records and radiographs of 182 patients was made. Three main groups of orthopaedic conditions were evaluated: (a) Fractures: 60% of the patients had one or more fractures; the average fracture rate was 1.4/patient. (b) Neuropathic joints: 11% of the cases had one or more neuropathic joints, the knee being the most common. (c) Other musculoskeletal deformities: 26% of the patients had one or more deformities. Lower extremity rotational problems and foot anomalies accounted for most of these deformities. Patients with FD have a higher prevalence of fractures and neuropathic joints than do their peers. The fracture pattern also is different, with a higher incidence of proximal femoral fractures.