Hip dysplasia, Beukes type

Orpha code: 2114OMIM code: 142669

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
BFHD
BFHD
Przedwczesna osteoartropatia zwyrodnieniowa stawu biodrowego
Rodzinna dysplazja stawów biodrowych Beukesa
Zespół Cilliersa i Beightona
Beukes familial hip dysplasia
Cilliers-Beighton syndrome
Premature degenerative osteoarthropathy of the hip
Kod ORPHA
2114
Kod OMIM
142669
Kod ICD10
Q65.8
Kod ICD11
LD24.6Y

No additional description.

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