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Hip dysplasia, Beukes type

Disease definition

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 develop in childhood and that progress 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.


Classification level: Disorder
  • 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
  • ICD-10: Q65.8
  • ICD-11: LD24.6Y
  • OMIM: 142669
  • UMLS: C1840572
  • MeSH: -
  • GARD: 2690
  • MedDRA: -
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