hip dysplasia, Beukes type https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/beukes_hip_dysplasia Cilliers-Beighton syndrome osteoarthropathy, premature degenerative, of hip BFHD Orphanet:2114 BHD MEDGEN:333593 UMLS:C1840572 GARD:0002690 MONDO:0007726 OMIM:142669 SCTID:721148005 Beukes familial hip dysplasia hip dysplasia Beukes type DOID:0111367 Beukes familial hip dysplasia (BFHD) is 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 develops in childhood and that progresses 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. Beukes hip dysplasia MESH:C564185 premature degenerative osteoarthropathy of the hip hip dysplasia, Beukes type spondyloepiphyseal dysplasia obsolete_hip dysplasia, Beukes type