Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl