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. [ Orphanet:2114 ]
Synonyms: Beukes familial hip dysplasia Cilliers-Beighton syndrome premature degenerative osteoarthropathy of the hip hip dysplasia, Beukes type BFHD
Term information
- MEDGEN:333593 (MONDO:equivalentTo)
- UMLS:C1840572 (MONDO:equivalentTo)
- OMIM:142669 (Orphanet:2114/e)
- GARD:2690 (MONDO:GARD)
- MESH:C564185 (MONDO:equivalentTo)
- DOID:0111367 (MONDO:equivalentTo)
- Orphanet:2114 (OMIM:142669)
- SCTID:721148005 (MONDO:equivalentTo)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare
http://identifiers.org/mesh/C564185
http://identifiers.org/medgen/333593
http://www.orpha.net/ORDO/Orphanet_2114
http://purl.obolibrary.org/obo/DOID_0111367
http://linkedlifedata.com/resource/umls/id/C1840572
http://identifiers.org/snomedct/721148005
https://omim.org/entry/142669
osteoarthropathy, premature degenerative, of hip
Beukes hip dysplasia
hip dysplasia Beukes type
BHD