Conditions / Genetic

Beukes hip dysplasia

info ยท Genetic

An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosom

An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1.

Signs and symptoms

  • Hip dysplasia
  • Avascular necrosis of the capital femoral epiphysis
  • Broad femoral neck
  • Wide proximal femoral metaphysis
  • Flat capital femoral epiphysis
  • Irregular capital femoral epiphysis
  • Shallow acetabular fossae
  • Osteoarthritis

Also known as: BFHD; Beukes familial hip dysplasia; Beukes type hip dysplasia; Cilliers-Beighton syndrome; Premature degenerative osteoarthropathy of the hip