Hip dysplasia, Beukes type

Orpha code: 2114OMIM code: 142669

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.

Disease data
Classification

Disease

Synonyms
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
ORPHA code
2114
OMIM code
142669
ICD10 code
Q65.8
ICD11 code
LD24.6Y

No additional description.

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