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 nervou s systems. The purpose of this study was to assess the prevalence and chara cteristics of orthopedic deformities, other than spinal deformities, in thi s 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; t he average fracture rate was 1.4/patient. (b) Neuropathic joints: 11% of th e 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 accoun ted for most of these deformities. Patients with FD have a higher prevalenc e of fractures and neuropathic joints than do their peers. The fracture pat tern also is different, with a higher incidence of proximal femoral fractur es.