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Hip dysplasia, Beukes type

Synonym(s) BFHD
Beukes familial hip dysplasia
Cilliers-Beighton syndrome
Premature degenerative osteoarthropathy of the hip
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
  • Q65.8
MeSH -
MedDRA -


Disease definition

Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

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