Hip dysplasia, Beukes type

Hip dysplasia, Beukes type (also known as Beukes familial hip dysplasia or coxarthrosis) is a rare inherited skeletal disorder first described in a large Afrikaner family in South Africa. The condition primarily affects the hip joints, leading to progressive premature degenerative arthritis (osteoarthritis) of the hips. It is caused by a pathogenic variant in the UFSP2 gene on chromosome 4q35, which encodes a protease involved in the UFM1 ubiquitin-like modification pathway. The disease typically manifests in early childhood, with affected individuals developing hip dysplasia characterized by flattening and irregularity of the femoral heads (the ball portion of the hip joint). Over time, this leads to progressive joint degeneration, pain, and significant limitation of hip mobility. The condition appears to be largely confined to the hip joints, distinguishing it from more generalized skeletal dysplasias, although mild changes in other joints have occasionally been noted. Radiographic findings include fragmentation and flattening of the femoral capital epiphyses, resembling Legg-Calvé-Perthes disease, but occurring bilaterally and with a clear hereditary pattern. There is currently no cure or disease-specific treatment for Beukes type hip dysplasia. Management is symptomatic and supportive, focusing on pain relief, physical therapy to maintain mobility, and orthopedic interventions. Many affected individuals ultimately require total hip replacement surgery due to severe degenerative changes. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern.

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