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Hip dysplasia, Beukes type

Orpha number ORPHA2114
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-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Beukes familial hip dysplasia (BFHD) is an inherited skeletal disorder characterized by premature degenerative osteoarthropathy of the hip joint. Due to some additional minor changes in the spine, the disease is classified into the general spondyloepiphyseal dysplasia nosological category. The name of the entity is derived from the original Dutch-Afrikaner family in which it was first detected. Hip-joint discomfort/pain is the main symptom. It usually develops during childhood at age <2 years but may develop either later in childhood or, as in one instance, as late as 35 years of the age. In the majority of affected individuals the disease course is progressive with severe crippling by early adulthood. General health is good, height is not significantly reduced, and there is no extra-skeletal involvement. The disease has been described in large South African families and pedigree data indicate autosomal dominant inheritance with many instances of male-to-male transmission. The gene for the disorder, BFHD (BHD), maps to an 11-cM region on chromosome 4q35, although it is also possible that it is located on chromosome 4q12. The earliest radiological changes are broadening of the femoral necks, late appearance of secondary ossification centers of the femoral head and irregular appearance of the proximal epiphyseal line of the femur. Signs of degenerative osteoarthrosis (periarticular cysts, periarticular sclerosis and narrowing of the joint space) are evident in early to mid-childhood and are progressive. In the later stages, coxa vara is a prominent finding. Management includes pain relief (analgesics, non-steroidal anti-inflammatory drugs). Orthopedic surgical procedures and follow-up care should be provided.

Expert reviewer(s)

  • Dr Martine LE MERRER

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